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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs55966864

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:99151464-99151487 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)15 / del(A)14 / del(A)13 / d…

del(A)15 / del(A)14 / del(A)13 / del(A)12 / del(A)10 / del(A)9 / del(A)8 / del(A)7 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)22 / ins(A)28

Variation Type
Indel Insertion and Deletion
Frequency
del(A)14=0.0000 (0/1710, ALFA)
del(A)13=0.0000 (0/1710, ALFA)
del(A)12=0.0000 (0/1710, ALFA) (+ 12 more)
del(A)10=0.0000 (0/1710, ALFA)
del(A)9=0.0000 (0/1710, ALFA)
del(A)8=0.0000 (0/1710, ALFA)
del(A)7=0.0000 (0/1710, ALFA)
del(A)4=0.0000 (0/1710, ALFA)
delAAA=0.0000 (0/1710, ALFA)
delAA=0.0000 (0/1710, ALFA)
delA=0.0000 (0/1710, ALFA)
dupA=0.0000 (0/1710, ALFA)
dupAA=0.0000 (0/1710, ALFA)
dupAAA=0.0000 (0/1710, ALFA)
dup(A)4=0.0000 (0/1710, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TSGA10 : Intron Variant
C2orf15 : 3 Prime UTR Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 1710 AAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 1022 AAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 474 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 20 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 454 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 10 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 6 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 4 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 18 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 112 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 14 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 60 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 1710 (A)24=1.0000 del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator European Sub 1022 (A)24=1.0000 del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator African Sub 474 (A)24=1.000 del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 112 (A)24=1.000 del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Other Sub 60 (A)24=1.00 del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 18 (A)24=1.00 del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator South Asian Sub 14 (A)24=1.00 del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator Asian Sub 10 (A)24=1.0 del(A)14=0.0, del(A)13=0.0, del(A)12=0.0, del(A)10=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 2 NC_000002.12:g.99151473_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151474_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151475_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151476_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151478_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151479_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151480_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151481_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151483_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151484_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151485_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151486_99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151487del
GRCh38.p14 chr 2 NC_000002.12:g.99151487dup
GRCh38.p14 chr 2 NC_000002.12:g.99151486_99151487dup
GRCh38.p14 chr 2 NC_000002.12:g.99151485_99151487dup
GRCh38.p14 chr 2 NC_000002.12:g.99151484_99151487dup
GRCh38.p14 chr 2 NC_000002.12:g.99151483_99151487dup
GRCh38.p14 chr 2 NC_000002.12:g.99151482_99151487dup
GRCh38.p14 chr 2 NC_000002.12:g.99151466_99151487dup
GRCh38.p14 chr 2 NC_000002.12:g.99151487_99151488insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.99767936_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767937_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767938_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767939_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767941_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767942_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767943_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767944_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767946_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767947_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767948_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767949_99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767950del
GRCh37.p13 chr 2 NC_000002.11:g.99767950dup
GRCh37.p13 chr 2 NC_000002.11:g.99767949_99767950dup
GRCh37.p13 chr 2 NC_000002.11:g.99767948_99767950dup
GRCh37.p13 chr 2 NC_000002.11:g.99767947_99767950dup
GRCh37.p13 chr 2 NC_000002.11:g.99767946_99767950dup
GRCh37.p13 chr 2 NC_000002.11:g.99767945_99767950dup
GRCh37.p13 chr 2 NC_000002.11:g.99767929_99767950dup
GRCh37.p13 chr 2 NC_000002.11:g.99767950_99767951insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LIPT1 RefSeqGene NG_050665.1:g.1519_1533del
LIPT1 RefSeqGene NG_050665.1:g.1520_1533del
LIPT1 RefSeqGene NG_050665.1:g.1521_1533del
LIPT1 RefSeqGene NG_050665.1:g.1522_1533del
LIPT1 RefSeqGene NG_050665.1:g.1524_1533del
LIPT1 RefSeqGene NG_050665.1:g.1525_1533del
LIPT1 RefSeqGene NG_050665.1:g.1526_1533del
LIPT1 RefSeqGene NG_050665.1:g.1527_1533del
LIPT1 RefSeqGene NG_050665.1:g.1529_1533del
LIPT1 RefSeqGene NG_050665.1:g.1530_1533del
LIPT1 RefSeqGene NG_050665.1:g.1531_1533del
LIPT1 RefSeqGene NG_050665.1:g.1532_1533del
LIPT1 RefSeqGene NG_050665.1:g.1533del
LIPT1 RefSeqGene NG_050665.1:g.1533dup
LIPT1 RefSeqGene NG_050665.1:g.1532_1533dup
LIPT1 RefSeqGene NG_050665.1:g.1531_1533dup
LIPT1 RefSeqGene NG_050665.1:g.1530_1533dup
LIPT1 RefSeqGene NG_050665.1:g.1529_1533dup
LIPT1 RefSeqGene NG_050665.1:g.1528_1533dup
LIPT1 RefSeqGene NG_050665.1:g.1512_1533dup
LIPT1 RefSeqGene NG_050665.1:g.1533_1534insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene: TSGA10, testis specific 10 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TSGA10 transcript variant 4 NM_001349013.2:c.-519+321…

NM_001349013.2:c.-519+3215_-519+3229del

N/A Intron Variant
TSGA10 transcript variant 1 NM_025244.4:c.-621+3215_-…

NM_025244.4:c.-621+3215_-621+3229del

N/A Intron Variant
TSGA10 transcript variant 3 NM_001349012.1:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant 5 NM_001349014.1:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant 2 NM_182911.4:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant 7 NR_146053.2:n. N/A Intron Variant
TSGA10 transcript variant 8 NR_146054.1:n. N/A Intron Variant
TSGA10 transcript variant 9 NR_146055.2:n. N/A Intron Variant
TSGA10 transcript variant 6 NR_146001.2:n. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant X11 XM_017005041.3:c.-529+321…

XM_017005041.3:c.-529+3215_-529+3229del

N/A Intron Variant
TSGA10 transcript variant X3 XM_047445928.1:c.33+2813_…

XM_047445928.1:c.33+2813_33+2827del

N/A Intron Variant
TSGA10 transcript variant X4 XM_047445929.1:c.33+2813_…

XM_047445929.1:c.33+2813_33+2827del

N/A Intron Variant
TSGA10 transcript variant X5 XM_047445930.1:c.33+2813_…

XM_047445930.1:c.33+2813_33+2827del

N/A Intron Variant
TSGA10 transcript variant X6 XM_047445931.1:c.33+2813_…

XM_047445931.1:c.33+2813_33+2827del

N/A Intron Variant
TSGA10 transcript variant X7 XM_047445932.1:c.33+2813_…

XM_047445932.1:c.33+2813_33+2827del

N/A Intron Variant
TSGA10 transcript variant X16 XM_047445934.1:c.-400+335…

XM_047445934.1:c.-400+3359_-400+3373del

N/A Intron Variant
TSGA10 transcript variant X10 XM_005264023.2:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant X15 XM_006712781.3:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant X1 XM_011511934.1:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant X8 XM_011511935.4:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant X2 XM_017005035.2:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant X9 XM_017005037.1:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant X13 XM_017005044.2:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant X17 XM_017005046.2:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant X14 XM_024453158.2:c. N/A Genic Upstream Transcript Variant
TSGA10 transcript variant X12 XM_047445933.1:c. N/A Genic Upstream Transcript Variant
Gene: C2orf15, chromosome 2 open reading frame 15 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
C2orf15 transcript variant 1 NM_001317992.2:c.*630_*65…

NM_001317992.2:c.*630_*653=

N/A 3 Prime UTR Variant
C2orf15 transcript variant 2 NM_144706.4:c.*630_*653= N/A 3 Prime UTR Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)24= del(A)15 del(A)14 del(A)13 del(A)12 del(A)10 del(A)9 del(A)8 del(A)7 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)22 ins(A)28
GRCh38.p14 chr 2 NC_000002.12:g.99151464_99151487= NC_000002.12:g.99151473_99151487del NC_000002.12:g.99151474_99151487del NC_000002.12:g.99151475_99151487del NC_000002.12:g.99151476_99151487del NC_000002.12:g.99151478_99151487del NC_000002.12:g.99151479_99151487del NC_000002.12:g.99151480_99151487del NC_000002.12:g.99151481_99151487del NC_000002.12:g.99151483_99151487del NC_000002.12:g.99151484_99151487del NC_000002.12:g.99151485_99151487del NC_000002.12:g.99151486_99151487del NC_000002.12:g.99151487del NC_000002.12:g.99151487dup NC_000002.12:g.99151486_99151487dup NC_000002.12:g.99151485_99151487dup NC_000002.12:g.99151484_99151487dup NC_000002.12:g.99151483_99151487dup NC_000002.12:g.99151482_99151487dup NC_000002.12:g.99151466_99151487dup NC_000002.12:g.99151487_99151488insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.99767927_99767950= NC_000002.11:g.99767936_99767950del NC_000002.11:g.99767937_99767950del NC_000002.11:g.99767938_99767950del NC_000002.11:g.99767939_99767950del NC_000002.11:g.99767941_99767950del NC_000002.11:g.99767942_99767950del NC_000002.11:g.99767943_99767950del NC_000002.11:g.99767944_99767950del NC_000002.11:g.99767946_99767950del NC_000002.11:g.99767947_99767950del NC_000002.11:g.99767948_99767950del NC_000002.11:g.99767949_99767950del NC_000002.11:g.99767950del NC_000002.11:g.99767950dup NC_000002.11:g.99767949_99767950dup NC_000002.11:g.99767948_99767950dup NC_000002.11:g.99767947_99767950dup NC_000002.11:g.99767946_99767950dup NC_000002.11:g.99767945_99767950dup NC_000002.11:g.99767929_99767950dup NC_000002.11:g.99767950_99767951insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LIPT1 RefSeqGene NG_050665.1:g.1510_1533= NG_050665.1:g.1519_1533del NG_050665.1:g.1520_1533del NG_050665.1:g.1521_1533del NG_050665.1:g.1522_1533del NG_050665.1:g.1524_1533del NG_050665.1:g.1525_1533del NG_050665.1:g.1526_1533del NG_050665.1:g.1527_1533del NG_050665.1:g.1529_1533del NG_050665.1:g.1530_1533del NG_050665.1:g.1531_1533del NG_050665.1:g.1532_1533del NG_050665.1:g.1533del NG_050665.1:g.1533dup NG_050665.1:g.1532_1533dup NG_050665.1:g.1531_1533dup NG_050665.1:g.1530_1533dup NG_050665.1:g.1529_1533dup NG_050665.1:g.1528_1533dup NG_050665.1:g.1512_1533dup NG_050665.1:g.1533_1534insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
C2orf15 transcript variant 2 NM_144706.4:c.*630_*653= NM_144706.4:c.*639_*653del NM_144706.4:c.*640_*653del NM_144706.4:c.*641_*653del NM_144706.4:c.*642_*653del NM_144706.4:c.*644_*653del NM_144706.4:c.*645_*653del NM_144706.4:c.*646_*653del NM_144706.4:c.*647_*653del NM_144706.4:c.*649_*653del NM_144706.4:c.*650_*653del NM_144706.4:c.*651_*653del NM_144706.4:c.*652_*653del NM_144706.4:c.*653del NM_144706.4:c.*653dup NM_144706.4:c.*652_*653dup NM_144706.4:c.*651_*653dup NM_144706.4:c.*650_*653dup NM_144706.4:c.*649_*653dup NM_144706.4:c.*648_*653dup NM_144706.4:c.*632_*653dup NM_144706.4:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
C2orf15 transcript variant 2 NM_144706.3:c.*630_*653= NM_144706.3:c.*639_*653del NM_144706.3:c.*640_*653del NM_144706.3:c.*641_*653del NM_144706.3:c.*642_*653del NM_144706.3:c.*644_*653del NM_144706.3:c.*645_*653del NM_144706.3:c.*646_*653del NM_144706.3:c.*647_*653del NM_144706.3:c.*649_*653del NM_144706.3:c.*650_*653del NM_144706.3:c.*651_*653del NM_144706.3:c.*652_*653del NM_144706.3:c.*653del NM_144706.3:c.*653dup NM_144706.3:c.*652_*653dup NM_144706.3:c.*651_*653dup NM_144706.3:c.*650_*653dup NM_144706.3:c.*649_*653dup NM_144706.3:c.*648_*653dup NM_144706.3:c.*632_*653dup NM_144706.3:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
C2orf15 transcript NM_144706.2:c.*630_*653= NM_144706.2:c.*639_*653del NM_144706.2:c.*640_*653del NM_144706.2:c.*641_*653del NM_144706.2:c.*642_*653del NM_144706.2:c.*644_*653del NM_144706.2:c.*645_*653del NM_144706.2:c.*646_*653del NM_144706.2:c.*647_*653del NM_144706.2:c.*649_*653del NM_144706.2:c.*650_*653del NM_144706.2:c.*651_*653del NM_144706.2:c.*652_*653del NM_144706.2:c.*653del NM_144706.2:c.*653dup NM_144706.2:c.*652_*653dup NM_144706.2:c.*651_*653dup NM_144706.2:c.*650_*653dup NM_144706.2:c.*649_*653dup NM_144706.2:c.*648_*653dup NM_144706.2:c.*632_*653dup NM_144706.2:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
C2orf15 transcript variant 1 NM_001317992.2:c.*630_*653= NM_001317992.2:c.*639_*653del NM_001317992.2:c.*640_*653del NM_001317992.2:c.*641_*653del NM_001317992.2:c.*642_*653del NM_001317992.2:c.*644_*653del NM_001317992.2:c.*645_*653del NM_001317992.2:c.*646_*653del NM_001317992.2:c.*647_*653del NM_001317992.2:c.*649_*653del NM_001317992.2:c.*650_*653del NM_001317992.2:c.*651_*653del NM_001317992.2:c.*652_*653del NM_001317992.2:c.*653del NM_001317992.2:c.*653dup NM_001317992.2:c.*652_*653dup NM_001317992.2:c.*651_*653dup NM_001317992.2:c.*650_*653dup NM_001317992.2:c.*649_*653dup NM_001317992.2:c.*648_*653dup NM_001317992.2:c.*632_*653dup NM_001317992.2:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
C2orf15 transcript variant 1 NM_001317992.1:c.*630_*653= NM_001317992.1:c.*639_*653del NM_001317992.1:c.*640_*653del NM_001317992.1:c.*641_*653del NM_001317992.1:c.*642_*653del NM_001317992.1:c.*644_*653del NM_001317992.1:c.*645_*653del NM_001317992.1:c.*646_*653del NM_001317992.1:c.*647_*653del NM_001317992.1:c.*649_*653del NM_001317992.1:c.*650_*653del NM_001317992.1:c.*651_*653del NM_001317992.1:c.*652_*653del NM_001317992.1:c.*653del NM_001317992.1:c.*653dup NM_001317992.1:c.*652_*653dup NM_001317992.1:c.*651_*653dup NM_001317992.1:c.*650_*653dup NM_001317992.1:c.*649_*653dup NM_001317992.1:c.*648_*653dup NM_001317992.1:c.*632_*653dup NM_001317992.1:c.*653_*654insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TSGA10 transcript variant 4 NM_001349013.2:c.-519+3229= NM_001349013.2:c.-519+3215_-519+3229del NM_001349013.2:c.-519+3216_-519+3229del NM_001349013.2:c.-519+3217_-519+3229del NM_001349013.2:c.-519+3218_-519+3229del NM_001349013.2:c.-519+3220_-519+3229del NM_001349013.2:c.-519+3221_-519+3229del NM_001349013.2:c.-519+3222_-519+3229del NM_001349013.2:c.-519+3223_-519+3229del NM_001349013.2:c.-519+3225_-519+3229del NM_001349013.2:c.-519+3226_-519+3229del NM_001349013.2:c.-519+3227_-519+3229del NM_001349013.2:c.-519+3228_-519+3229del NM_001349013.2:c.-519+3229del NM_001349013.2:c.-519+3229dup NM_001349013.2:c.-519+3228_-519+3229dup NM_001349013.2:c.-519+3227_-519+3229dup NM_001349013.2:c.-519+3226_-519+3229dup NM_001349013.2:c.-519+3225_-519+3229dup NM_001349013.2:c.-519+3224_-519+3229dup NM_001349013.2:c.-519+3208_-519+3229dup NM_001349013.2:c.-519+3229_-519+3230insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TSGA10 transcript variant 1 NM_025244.2:c.-621+3229= NM_025244.2:c.-621+3215_-621+3229del NM_025244.2:c.-621+3216_-621+3229del NM_025244.2:c.-621+3217_-621+3229del NM_025244.2:c.-621+3218_-621+3229del NM_025244.2:c.-621+3220_-621+3229del NM_025244.2:c.-621+3221_-621+3229del NM_025244.2:c.-621+3222_-621+3229del NM_025244.2:c.-621+3223_-621+3229del NM_025244.2:c.-621+3225_-621+3229del NM_025244.2:c.-621+3226_-621+3229del NM_025244.2:c.-621+3227_-621+3229del NM_025244.2:c.-621+3228_-621+3229del NM_025244.2:c.-621+3229del NM_025244.2:c.-621+3229dup NM_025244.2:c.-621+3228_-621+3229dup NM_025244.2:c.-621+3227_-621+3229dup NM_025244.2:c.-621+3226_-621+3229dup NM_025244.2:c.-621+3225_-621+3229dup NM_025244.2:c.-621+3224_-621+3229dup NM_025244.2:c.-621+3208_-621+3229dup NM_025244.2:c.-621+3229_-621+3230insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TSGA10 transcript variant 1 NM_025244.4:c.-621+3229= NM_025244.4:c.-621+3215_-621+3229del NM_025244.4:c.-621+3216_-621+3229del NM_025244.4:c.-621+3217_-621+3229del NM_025244.4:c.-621+3218_-621+3229del NM_025244.4:c.-621+3220_-621+3229del NM_025244.4:c.-621+3221_-621+3229del NM_025244.4:c.-621+3222_-621+3229del NM_025244.4:c.-621+3223_-621+3229del NM_025244.4:c.-621+3225_-621+3229del NM_025244.4:c.-621+3226_-621+3229del NM_025244.4:c.-621+3227_-621+3229del NM_025244.4:c.-621+3228_-621+3229del NM_025244.4:c.-621+3229del NM_025244.4:c.-621+3229dup NM_025244.4:c.-621+3228_-621+3229dup NM_025244.4:c.-621+3227_-621+3229dup NM_025244.4:c.-621+3226_-621+3229dup NM_025244.4:c.-621+3225_-621+3229dup NM_025244.4:c.-621+3224_-621+3229dup NM_025244.4:c.-621+3208_-621+3229dup NM_025244.4:c.-621+3229_-621+3230insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TSGA10 transcript variant X11 XM_017005041.3:c.-529+3229= XM_017005041.3:c.-529+3215_-529+3229del XM_017005041.3:c.-529+3216_-529+3229del XM_017005041.3:c.-529+3217_-529+3229del XM_017005041.3:c.-529+3218_-529+3229del XM_017005041.3:c.-529+3220_-529+3229del XM_017005041.3:c.-529+3221_-529+3229del XM_017005041.3:c.-529+3222_-529+3229del XM_017005041.3:c.-529+3223_-529+3229del XM_017005041.3:c.-529+3225_-529+3229del XM_017005041.3:c.-529+3226_-529+3229del XM_017005041.3:c.-529+3227_-529+3229del XM_017005041.3:c.-529+3228_-529+3229del XM_017005041.3:c.-529+3229del XM_017005041.3:c.-529+3229dup XM_017005041.3:c.-529+3228_-529+3229dup XM_017005041.3:c.-529+3227_-529+3229dup XM_017005041.3:c.-529+3226_-529+3229dup XM_017005041.3:c.-529+3225_-529+3229dup XM_017005041.3:c.-529+3224_-529+3229dup XM_017005041.3:c.-529+3208_-529+3229dup XM_017005041.3:c.-529+3229_-529+3230insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TSGA10 transcript variant X3 XM_047445928.1:c.33+2827= XM_047445928.1:c.33+2813_33+2827del XM_047445928.1:c.33+2814_33+2827del XM_047445928.1:c.33+2815_33+2827del XM_047445928.1:c.33+2816_33+2827del XM_047445928.1:c.33+2818_33+2827del XM_047445928.1:c.33+2819_33+2827del XM_047445928.1:c.33+2820_33+2827del XM_047445928.1:c.33+2821_33+2827del XM_047445928.1:c.33+2823_33+2827del XM_047445928.1:c.33+2824_33+2827del XM_047445928.1:c.33+2825_33+2827del XM_047445928.1:c.33+2826_33+2827del XM_047445928.1:c.33+2827del XM_047445928.1:c.33+2827dup XM_047445928.1:c.33+2826_33+2827dup XM_047445928.1:c.33+2825_33+2827dup XM_047445928.1:c.33+2824_33+2827dup XM_047445928.1:c.33+2823_33+2827dup XM_047445928.1:c.33+2822_33+2827dup XM_047445928.1:c.33+2806_33+2827dup XM_047445928.1:c.33+2827_33+2828insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TSGA10 transcript variant X4 XM_047445929.1:c.33+2827= XM_047445929.1:c.33+2813_33+2827del XM_047445929.1:c.33+2814_33+2827del XM_047445929.1:c.33+2815_33+2827del XM_047445929.1:c.33+2816_33+2827del XM_047445929.1:c.33+2818_33+2827del XM_047445929.1:c.33+2819_33+2827del XM_047445929.1:c.33+2820_33+2827del XM_047445929.1:c.33+2821_33+2827del XM_047445929.1:c.33+2823_33+2827del XM_047445929.1:c.33+2824_33+2827del XM_047445929.1:c.33+2825_33+2827del XM_047445929.1:c.33+2826_33+2827del XM_047445929.1:c.33+2827del XM_047445929.1:c.33+2827dup XM_047445929.1:c.33+2826_33+2827dup XM_047445929.1:c.33+2825_33+2827dup XM_047445929.1:c.33+2824_33+2827dup XM_047445929.1:c.33+2823_33+2827dup XM_047445929.1:c.33+2822_33+2827dup XM_047445929.1:c.33+2806_33+2827dup XM_047445929.1:c.33+2827_33+2828insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TSGA10 transcript variant X5 XM_047445930.1:c.33+2827= XM_047445930.1:c.33+2813_33+2827del XM_047445930.1:c.33+2814_33+2827del XM_047445930.1:c.33+2815_33+2827del XM_047445930.1:c.33+2816_33+2827del XM_047445930.1:c.33+2818_33+2827del XM_047445930.1:c.33+2819_33+2827del XM_047445930.1:c.33+2820_33+2827del XM_047445930.1:c.33+2821_33+2827del XM_047445930.1:c.33+2823_33+2827del XM_047445930.1:c.33+2824_33+2827del XM_047445930.1:c.33+2825_33+2827del XM_047445930.1:c.33+2826_33+2827del XM_047445930.1:c.33+2827del XM_047445930.1:c.33+2827dup XM_047445930.1:c.33+2826_33+2827dup XM_047445930.1:c.33+2825_33+2827dup XM_047445930.1:c.33+2824_33+2827dup XM_047445930.1:c.33+2823_33+2827dup XM_047445930.1:c.33+2822_33+2827dup XM_047445930.1:c.33+2806_33+2827dup XM_047445930.1:c.33+2827_33+2828insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TSGA10 transcript variant X6 XM_047445931.1:c.33+2827= XM_047445931.1:c.33+2813_33+2827del XM_047445931.1:c.33+2814_33+2827del XM_047445931.1:c.33+2815_33+2827del XM_047445931.1:c.33+2816_33+2827del XM_047445931.1:c.33+2818_33+2827del XM_047445931.1:c.33+2819_33+2827del XM_047445931.1:c.33+2820_33+2827del XM_047445931.1:c.33+2821_33+2827del XM_047445931.1:c.33+2823_33+2827del XM_047445931.1:c.33+2824_33+2827del XM_047445931.1:c.33+2825_33+2827del XM_047445931.1:c.33+2826_33+2827del XM_047445931.1:c.33+2827del XM_047445931.1:c.33+2827dup XM_047445931.1:c.33+2826_33+2827dup XM_047445931.1:c.33+2825_33+2827dup XM_047445931.1:c.33+2824_33+2827dup XM_047445931.1:c.33+2823_33+2827dup XM_047445931.1:c.33+2822_33+2827dup XM_047445931.1:c.33+2806_33+2827dup XM_047445931.1:c.33+2827_33+2828insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TSGA10 transcript variant X7 XM_047445932.1:c.33+2827= XM_047445932.1:c.33+2813_33+2827del XM_047445932.1:c.33+2814_33+2827del XM_047445932.1:c.33+2815_33+2827del XM_047445932.1:c.33+2816_33+2827del XM_047445932.1:c.33+2818_33+2827del XM_047445932.1:c.33+2819_33+2827del XM_047445932.1:c.33+2820_33+2827del XM_047445932.1:c.33+2821_33+2827del XM_047445932.1:c.33+2823_33+2827del XM_047445932.1:c.33+2824_33+2827del XM_047445932.1:c.33+2825_33+2827del XM_047445932.1:c.33+2826_33+2827del XM_047445932.1:c.33+2827del XM_047445932.1:c.33+2827dup XM_047445932.1:c.33+2826_33+2827dup XM_047445932.1:c.33+2825_33+2827dup XM_047445932.1:c.33+2824_33+2827dup XM_047445932.1:c.33+2823_33+2827dup XM_047445932.1:c.33+2822_33+2827dup XM_047445932.1:c.33+2806_33+2827dup XM_047445932.1:c.33+2827_33+2828insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TSGA10 transcript variant X16 XM_047445934.1:c.-400+3373= XM_047445934.1:c.-400+3359_-400+3373del XM_047445934.1:c.-400+3360_-400+3373del XM_047445934.1:c.-400+3361_-400+3373del XM_047445934.1:c.-400+3362_-400+3373del XM_047445934.1:c.-400+3364_-400+3373del XM_047445934.1:c.-400+3365_-400+3373del XM_047445934.1:c.-400+3366_-400+3373del XM_047445934.1:c.-400+3367_-400+3373del XM_047445934.1:c.-400+3369_-400+3373del XM_047445934.1:c.-400+3370_-400+3373del XM_047445934.1:c.-400+3371_-400+3373del XM_047445934.1:c.-400+3372_-400+3373del XM_047445934.1:c.-400+3373del XM_047445934.1:c.-400+3373dup XM_047445934.1:c.-400+3372_-400+3373dup XM_047445934.1:c.-400+3371_-400+3373dup XM_047445934.1:c.-400+3370_-400+3373dup XM_047445934.1:c.-400+3369_-400+3373dup XM_047445934.1:c.-400+3368_-400+3373dup XM_047445934.1:c.-400+3352_-400+3373dup XM_047445934.1:c.-400+3373_-400+3374insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

58 SubSNP, 29 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41553685 Mar 15, 2016 (147)
2 HGSV ss77849368 Dec 06, 2007 (129)
3 HGSV ss77850985 Dec 06, 2007 (129)
4 HUMANGENOME_JCVI ss95279483 Mar 15, 2016 (147)
5 PJP ss294994537 Aug 21, 2014 (142)
6 PJP ss294994538 May 09, 2011 (135)
7 EVA_UK10K_TWINSUK ss1702890751 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1702890759 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1710014886 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1710014888 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710014918 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1710014920 Apr 01, 2015 (144)
13 SWEGEN ss2990042451 Nov 08, 2017 (151)
14 MCHAISSO ss3063947250 Nov 08, 2017 (151)
15 EVA_DECODE ss3704467510 Jul 13, 2019 (153)
16 EVA_DECODE ss3704467511 Jul 13, 2019 (153)
17 EVA_DECODE ss3704467512 Jul 13, 2019 (153)
18 EVA_DECODE ss3704467513 Jul 13, 2019 (153)
19 EVA_DECODE ss3704467514 Jul 13, 2019 (153)
20 EVA_DECODE ss3704467515 Jul 13, 2019 (153)
21 ACPOP ss3728676595 Jul 13, 2019 (153)
22 ACPOP ss3728676596 Jul 13, 2019 (153)
23 ACPOP ss3728676597 Jul 13, 2019 (153)
24 PACBIO ss3789509114 Jul 13, 2019 (153)
25 PACBIO ss3794381890 Jul 13, 2019 (153)
26 EVA ss3827114910 Apr 25, 2020 (154)
27 GNOMAD ss4046889465 Apr 27, 2021 (155)
28 GNOMAD ss4046889466 Apr 27, 2021 (155)
29 GNOMAD ss4046889467 Apr 27, 2021 (155)
30 GNOMAD ss4046889468 Apr 27, 2021 (155)
31 GNOMAD ss4046889469 Apr 27, 2021 (155)
32 GNOMAD ss4046889470 Apr 27, 2021 (155)
33 GNOMAD ss4046889471 Apr 27, 2021 (155)
34 GNOMAD ss4046889472 Apr 27, 2021 (155)
35 GNOMAD ss4046889473 Apr 27, 2021 (155)
36 GNOMAD ss4046889474 Apr 27, 2021 (155)
37 GNOMAD ss4046889475 Apr 27, 2021 (155)
38 GNOMAD ss4046889476 Apr 27, 2021 (155)
39 GNOMAD ss4046889477 Apr 27, 2021 (155)
40 TOMMO_GENOMICS ss5152818136 Apr 27, 2021 (155)
41 TOMMO_GENOMICS ss5152818137 Apr 27, 2021 (155)
42 TOMMO_GENOMICS ss5152818138 Apr 27, 2021 (155)
43 TOMMO_GENOMICS ss5152818139 Apr 27, 2021 (155)
44 1000G_HIGH_COVERAGE ss5249211689 Oct 12, 2022 (156)
45 1000G_HIGH_COVERAGE ss5249211690 Oct 12, 2022 (156)
46 1000G_HIGH_COVERAGE ss5249211691 Oct 12, 2022 (156)
47 1000G_HIGH_COVERAGE ss5249211692 Oct 12, 2022 (156)
48 1000G_HIGH_COVERAGE ss5249211694 Oct 12, 2022 (156)
49 HUGCELL_USP ss5449156430 Oct 12, 2022 (156)
50 HUGCELL_USP ss5449156431 Oct 12, 2022 (156)
51 HUGCELL_USP ss5449156432 Oct 12, 2022 (156)
52 HUGCELL_USP ss5449156433 Oct 12, 2022 (156)
53 TOMMO_GENOMICS ss5682637047 Oct 12, 2022 (156)
54 TOMMO_GENOMICS ss5682637048 Oct 12, 2022 (156)
55 TOMMO_GENOMICS ss5682637049 Oct 12, 2022 (156)
56 EVA ss5820495889 Oct 12, 2022 (156)
57 EVA ss5820495890 Oct 12, 2022 (156)
58 EVA ss5820495891 Oct 12, 2022 (156)
59 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 5197406 (NC_000002.11:99767926:AAAA: 263/3854)
Row 5197408 (NC_000002.11:99767927:AA: 1276/3854)

- Oct 11, 2018 (152)
60 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 5197406 (NC_000002.11:99767926:AAAA: 263/3854)
Row 5197408 (NC_000002.11:99767927:AA: 1276/3854)

- Oct 11, 2018 (152)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 67256645 (NC_000002.12:99151463::A 4697/68626)
Row 67256646 (NC_000002.12:99151463::AA 258/68606)
Row 67256647 (NC_000002.12:99151463::AAA 37/69020)...

- Apr 27, 2021 (155)
74 Northern Sweden

Submission ignored due to conflicting rows:
Row 1961460 (NC_000002.11:99767926:AA: 79/556)
Row 1961461 (NC_000002.11:99767926::AAAAAAAAAAAAAAAAAAAAAAAAAAAA 1/556)
Row 1961462 (NC_000002.11:99767926::AAAAAAAAAAAAAAAAAAAAAA 2/556)

- Jul 13, 2019 (153)
75 Northern Sweden

Submission ignored due to conflicting rows:
Row 1961460 (NC_000002.11:99767926:AA: 79/556)
Row 1961461 (NC_000002.11:99767926::AAAAAAAAAAAAAAAAAAAAAAAAAAAA 1/556)
Row 1961462 (NC_000002.11:99767926::AAAAAAAAAAAAAAAAAAAAAA 2/556)

- Jul 13, 2019 (153)
76 Northern Sweden

Submission ignored due to conflicting rows:
Row 1961460 (NC_000002.11:99767926:AA: 79/556)
Row 1961461 (NC_000002.11:99767926::AAAAAAAAAAAAAAAAAAAAAAAAAAAA 1/556)
Row 1961462 (NC_000002.11:99767926::AAAAAAAAAAAAAAAAAAAAAA 2/556)

- Jul 13, 2019 (153)
77 8.3KJPN

Submission ignored due to conflicting rows:
Row 10787443 (NC_000002.11:99767926:AA: 10611/16252)
Row 10787444 (NC_000002.11:99767926:AAA: 85/16252)
Row 10787445 (NC_000002.11:99767926:A: 132/16252)...

- Apr 27, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 10787443 (NC_000002.11:99767926:AA: 10611/16252)
Row 10787444 (NC_000002.11:99767926:AAA: 85/16252)
Row 10787445 (NC_000002.11:99767926:A: 132/16252)...

- Apr 27, 2021 (155)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 10787443 (NC_000002.11:99767926:AA: 10611/16252)
Row 10787444 (NC_000002.11:99767926:AAA: 85/16252)
Row 10787445 (NC_000002.11:99767926:A: 132/16252)...

- Apr 27, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 10787443 (NC_000002.11:99767926:AA: 10611/16252)
Row 10787444 (NC_000002.11:99767926:AAA: 85/16252)
Row 10787445 (NC_000002.11:99767926:A: 132/16252)...

- Apr 27, 2021 (155)
81 14KJPN

Submission ignored due to conflicting rows:
Row 16474151 (NC_000002.12:99151463:AA: 20938/27854)
Row 16474152 (NC_000002.12:99151463:AAA: 159/27854)
Row 16474153 (NC_000002.12:99151463:A: 269/27854)

- Oct 12, 2022 (156)
82 14KJPN

Submission ignored due to conflicting rows:
Row 16474151 (NC_000002.12:99151463:AA: 20938/27854)
Row 16474152 (NC_000002.12:99151463:AAA: 159/27854)
Row 16474153 (NC_000002.12:99151463:A: 269/27854)

- Oct 12, 2022 (156)
83 14KJPN

Submission ignored due to conflicting rows:
Row 16474151 (NC_000002.12:99151463:AA: 20938/27854)
Row 16474152 (NC_000002.12:99151463:AAA: 159/27854)
Row 16474153 (NC_000002.12:99151463:A: 269/27854)

- Oct 12, 2022 (156)
84 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 5197406 (NC_000002.11:99767926:AAAA: 257/3708)
Row 5197408 (NC_000002.11:99767927:AA: 1177/3708)

- Oct 11, 2018 (152)
85 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 5197406 (NC_000002.11:99767926:AAAA: 257/3708)
Row 5197407 (NC_000002.11:99767928:AA: 2114/3708)
Row 5197408 (NC_000002.11:99767927:AAA: 1177/3708)

- Apr 25, 2020 (154)
86 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 5197406 (NC_000002.11:99767926:AAAA: 257/3708)
Row 5197408 (NC_000002.11:99767927:AA: 1177/3708)

- Oct 11, 2018 (152)
87 ALFA NC_000002.12 - 99151464 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs68082112 May 11, 2012 (137)
rs142364880 Sep 17, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5152818139 NC_000002.11:99767926:AAAAAAAAAAAA…

NC_000002.11:99767926:AAAAAAAAAAAAAAA:

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4046889477 NC_000002.12:99151463:AAAAAAAAAAAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4046889476 NC_000002.12:99151463:AAAAAAAAAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4046889475 NC_000002.12:99151463:AAAAAAAAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss2990042451 NC_000002.11:99767926:AAAAAAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4046889474 NC_000002.12:99151463:AAAAAAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3704467515 NC_000002.12:99151463:AAAAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1702890751, ss1702890759, ss3827114910, ss5820495891 NC_000002.11:99767926:AAAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4046889473 NC_000002.12:99151463:AAAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3704467514 NC_000002.12:99151464:AAAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5152818137, ss5820495890 NC_000002.11:99767926:AAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss1710014888, ss1710014920 NC_000002.11:99767927:AAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss5249211694, ss5449156433, ss5682637048 NC_000002.12:99151463:AAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3704467513 NC_000002.12:99151465:AAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss77849368, ss77850985 NC_000002.9:99226466:AA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss294994537 NC_000002.10:99134358:AA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss294994538 NC_000002.10:99134380:AA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3728676595, ss3789509114, ss3794381890, ss5152818136, ss5820495889 NC_000002.11:99767926:AA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000002.11:99767927:AA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss1710014886, ss1710014918 NC_000002.11:99767928:AA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3063947250, ss4046889472, ss5249211689, ss5449156430, ss5682637047 NC_000002.12:99151463:AA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3704467512 NC_000002.12:99151466:AA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss41553685 NT_022171.15:4441755:AA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss95279483 NT_022171.15:4441777:AA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5152818138 NC_000002.11:99767926:A: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4046889471, ss5249211690, ss5449156431, ss5682637049 NC_000002.12:99151463:A: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3704467511 NC_000002.12:99151467:A: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4046889465, ss5249211691, ss5449156432 NC_000002.12:99151463::A NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3704467510 NC_000002.12:99151468::A NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4046889466, ss5249211692 NC_000002.12:99151463::AA NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4046889467 NC_000002.12:99151463::AAA NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4046889468 NC_000002.12:99151463::AAAA NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
11028652178 NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4046889469 NC_000002.12:99151463::AAAAA NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4046889470 NC_000002.12:99151463::AAAAAA NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3728676597 NC_000002.11:99767926::AAAAAAAAAAA…

NC_000002.11:99767926::AAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3728676596 NC_000002.11:99767926::AAAAAAAAAAA…

NC_000002.11:99767926::AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3317028217 NC_000002.12:99151463:AAAAAAAA: NC_000002.12:99151463:AAAAAAAAAAAA…

NC_000002.12:99151463:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs55966864

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d