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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1472259377

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:20656368 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000007 (1/140150, GnomAD)
G=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IFT88 : Missense 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 14050 A=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 A=1.000 G=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 A=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 A=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 A=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 496 A=1.000 G=0.000 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
gnomAD - Genomes Global Study-wide 140150 A=0.999993 G=0.000007
gnomAD - Genomes European Sub 75898 A=1.00000 G=0.00000
gnomAD - Genomes African Sub 42026 A=0.99998 G=0.00002
gnomAD - Genomes American Sub 13618 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3134 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2150 A=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 14050 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 9690 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 G=0.00
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 13 NC_000013.11:g.20656368A>G
GRCh37.p13 chr 13 NC_000013.10:g.21230507A>G
Gene: IFT88, intraflagellar transport 88 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IFT88 transcript variant 15 NM_001353574.2:c.1847A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 9 NP_001340503.1:p.Asn616Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 13 NM_001353572.2:c.2006A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 7 NP_001340501.1:p.Asn669Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 20 NM_001353579.2:c.1373A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 13 NP_001340508.1:p.Asn458Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 1 NM_175605.5:c.2033A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 1 NP_783195.2:p.Asn678Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 4 NM_001318493.2:c.2033A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 1 NP_001305422.1:p.Asn678Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 2 NM_006531.5:c.2006A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 2 NP_006522.2:p.Asn669Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 16 NM_001353575.2:c.1949A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 10 NP_001340504.1:p.Asn650Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 12 NM_001353571.2:c.1904A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 6 NP_001340500.1:p.Asn635Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 3 NM_001318491.2:c.1949A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 3 NP_001305420.1:p.Asn650Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 8 NM_001353567.2:c.2033A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 1 NP_001340496.1:p.Asn678Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 11 NM_001353570.2:c.1931A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 5 NP_001340499.1:p.Asn644Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 18 NM_001353577.2:c.1931A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 11 NP_001340506.1:p.Asn644Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 17 NM_001353576.2:c.1931A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 11 NP_001340505.1:p.Asn644Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 7 NM_001353566.2:c.2033A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 1 NP_001340495.1:p.Asn678Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 19 NM_001353578.2:c.1904A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 12 NP_001340507.1:p.Asn635Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 9 NM_001353568.2:c.2006A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 2 NP_001340497.1:p.Asn669Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 6 NM_001353565.2:c.2033A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 1 NP_001340494.1:p.Asn678Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 10 NM_001353569.2:c.1931A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 5 NP_001340498.1:p.Asn644Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 14 NM_001353573.2:c.1862A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform 8 NP_001340502.1:p.Asn621Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant 23 NR_148464.2:n.2112A>G N/A Non Coding Transcript Variant
IFT88 transcript variant 22 NR_148463.2:n.2373A>G N/A Non Coding Transcript Variant
IFT88 transcript variant 24 NR_148465.2:n.1492A>G N/A Non Coding Transcript Variant
IFT88 transcript variant 21 NR_148462.2:n.2341A>G N/A Non Coding Transcript Variant
IFT88 transcript variant 5 NR_134653.2:n.2440A>G N/A Non Coding Transcript Variant
IFT88 transcript variant X28 XM_017020775.2:c. N/A Genic Downstream Transcript Variant
IFT88 transcript variant X32 XM_017020776.2:c. N/A Genic Downstream Transcript Variant
IFT88 transcript variant X30 XM_024449415.2:c. N/A Genic Downstream Transcript Variant
IFT88 transcript variant X31 XM_047430677.1:c. N/A Genic Downstream Transcript Variant
IFT88 transcript variant X33 XM_047430678.1:c. N/A Genic Downstream Transcript Variant
IFT88 transcript variant X34 XM_047430679.1:c. N/A Genic Downstream Transcript Variant
IFT88 transcript variant X1 XM_006719870.4:c.2006A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X1 XP_006719933.1:p.Asn669Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X2 XM_047430655.1:c.2006A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X1 XP_047286611.1:p.Asn669Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X3 XM_017020757.2:c.2006A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X1 XP_016876246.1:p.Asn669Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X4 XM_047430656.1:c.1976A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X2 XP_047286612.1:p.Asn659Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X5 XM_047430657.1:c.1976A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X2 XP_047286613.1:p.Asn659Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X6 XM_047430658.1:c.1949A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X3 XP_047286614.1:p.Asn650Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X7 XM_047430659.1:c.1946A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X4 XP_047286615.1:p.Asn649Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X8 XM_047430660.1:c.1946A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X4 XP_047286616.1:p.Asn649Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X9 XM_047430661.1:c.1931A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X5 XP_047286617.1:p.Asn644Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X10 XM_017020762.2:c.2033A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X6 XP_016876251.1:p.Asn678Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X11 XM_047430662.1:c.2033A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X6 XP_047286618.1:p.Asn678Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X12 XM_047430663.1:c.1919A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X7 XP_047286619.1:p.Asn640Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X13 XM_047430664.1:c.2033A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X8 XP_047286620.1:p.Asn678Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X14 XM_017020763.2:c.2033A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X8 XP_016876252.1:p.Asn678Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X15 XM_047430665.1:c.1904A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X9 XP_047286621.1:p.Asn635Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X16 XM_047430666.1:c.2006A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X10 XP_047286622.1:p.Asn669Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X17 XM_047430667.1:c.1889A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X11 XP_047286623.1:p.Asn630Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X18 XM_024449413.2:c.1874A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X12 XP_024305181.1:p.Asn625Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X19 XM_047430668.1:c.1874A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X12 XP_047286624.1:p.Asn625Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X20 XM_047430669.1:c.1976A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X13 XP_047286625.1:p.Asn659Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X21 XM_047430670.1:c.1844A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X14 XP_047286626.1:p.Asn615Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X22 XM_047430671.1:c.1844A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X14 XP_047286627.1:p.Asn615Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X23 XM_047430672.1:c.1949A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X15 XP_047286628.1:p.Asn650Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X24 XM_047430673.1:c.1817A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X16 XP_047286629.1:p.Asn606Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X25 XM_047430674.1:c.1919A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X17 XP_047286630.1:p.Asn640Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X26 XM_047430675.1:c.1760A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X18 XP_047286631.1:p.Asn587Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X27 XM_047430676.1:c.2033A>G N [AAC] > S [AGC] Coding Sequence Variant
intraflagellar transport protein 88 homolog isoform X19 XP_047286632.1:p.Asn678Ser N (Asn) > S (Ser) Missense Variant
IFT88 transcript variant X29 XR_007063700.1:n.1877A>G N/A Non Coding Transcript 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= G
GRCh38.p14 chr 13 NC_000013.11:g.20656368= NC_000013.11:g.20656368A>G
GRCh37.p13 chr 13 NC_000013.10:g.21230507= NC_000013.10:g.21230507A>G
IFT88 transcript variant 1 NM_175605.5:c.2033= NM_175605.5:c.2033A>G
IFT88 transcript variant 1 NM_175605.4:c.2033= NM_175605.4:c.2033A>G
IFT88 transcript variant 1 NM_175605.3:c.2033= NM_175605.3:c.2033A>G
IFT88 transcript variant 2 NM_006531.5:c.2006= NM_006531.5:c.2006A>G
IFT88 transcript variant 2 NM_006531.4:c.2006= NM_006531.4:c.2006A>G
IFT88 transcript variant 2 NM_006531.3:c.2006= NM_006531.3:c.2006A>G
IFT88 transcript variant X1 XM_006719870.4:c.2006= XM_006719870.4:c.2006A>G
IFT88 transcript variant X3 XM_006719870.3:c.2006= XM_006719870.3:c.2006A>G
IFT88 transcript variant X15 XM_006719870.2:c.2006= XM_006719870.2:c.2006A>G
IFT88 transcript variant X13 XM_006719870.1:c.2006= XM_006719870.1:c.2006A>G
IFT88 transcript variant 5 NR_134653.2:n.2440= NR_134653.2:n.2440A>G
IFT88 transcript variant 5 NR_134653.1:n.2781= NR_134653.1:n.2781A>G
IFT88 transcript variant 21 NR_148462.2:n.2341= NR_148462.2:n.2341A>G
IFT88 transcript variant 21 NR_148462.1:n.2682= NR_148462.1:n.2682A>G
IFT88 transcript variant 22 NR_148463.2:n.2373= NR_148463.2:n.2373A>G
IFT88 transcript variant 22 NR_148463.1:n.2714= NR_148463.1:n.2714A>G
IFT88 transcript variant 9 NM_001353568.2:c.2006= NM_001353568.2:c.2006A>G
IFT88 transcript variant 9 NM_001353568.1:c.2006= NM_001353568.1:c.2006A>G
IFT88 transcript variant X14 XM_017020763.2:c.2033= XM_017020763.2:c.2033A>G
IFT88 transcript variant X8 XM_017020763.1:c.2033= XM_017020763.1:c.2033A>G
IFT88 transcript variant X3 XM_017020757.2:c.2006= XM_017020757.2:c.2006A>G
IFT88 transcript variant X1 XM_017020757.1:c.2006= XM_017020757.1:c.2006A>G
IFT88 transcript variant 4 NM_001318493.2:c.2033= NM_001318493.2:c.2033A>G
IFT88 transcript variant 4 NM_001318493.1:c.2033= NM_001318493.1:c.2033A>G
IFT88 transcript variant 7 NM_001353566.2:c.2033= NM_001353566.2:c.2033A>G
IFT88 transcript variant 7 NM_001353566.1:c.2033= NM_001353566.1:c.2033A>G
IFT88 transcript variant X10 XM_017020762.2:c.2033= XM_017020762.2:c.2033A>G
IFT88 transcript variant X7 XM_017020762.1:c.2033= XM_017020762.1:c.2033A>G
IFT88 transcript variant X18 XM_024449413.2:c.1874= XM_024449413.2:c.1874A>G
IFT88 transcript variant X10 XM_024449413.1:c.1874= XM_024449413.1:c.1874A>G
IFT88 transcript variant 11 NM_001353570.2:c.1931= NM_001353570.2:c.1931A>G
IFT88 transcript variant 11 NM_001353570.1:c.1931= NM_001353570.1:c.1931A>G
IFT88 transcript variant 23 NR_148464.2:n.2112= NR_148464.2:n.2112A>G
IFT88 transcript variant 23 NR_148464.1:n.2453= NR_148464.1:n.2453A>G
IFT88 transcript variant 6 NM_001353565.2:c.2033= NM_001353565.2:c.2033A>G
IFT88 transcript variant 6 NM_001353565.1:c.2033= NM_001353565.1:c.2033A>G
IFT88 transcript variant 8 NM_001353567.2:c.2033= NM_001353567.2:c.2033A>G
IFT88 transcript variant 8 NM_001353567.1:c.2033= NM_001353567.1:c.2033A>G
IFT88 transcript variant 17 NM_001353576.2:c.1931= NM_001353576.2:c.1931A>G
IFT88 transcript variant 17 NM_001353576.1:c.1931= NM_001353576.1:c.1931A>G
IFT88 transcript variant 10 NM_001353569.2:c.1931= NM_001353569.2:c.1931A>G
IFT88 transcript variant 10 NM_001353569.1:c.1931= NM_001353569.1:c.1931A>G
IFT88 transcript variant 18 NM_001353577.2:c.1931= NM_001353577.2:c.1931A>G
IFT88 transcript variant 18 NM_001353577.1:c.1931= NM_001353577.1:c.1931A>G
IFT88 transcript variant 16 NM_001353575.2:c.1949= NM_001353575.2:c.1949A>G
IFT88 transcript variant 16 NM_001353575.1:c.1949= NM_001353575.1:c.1949A>G
IFT88 transcript variant 3 NM_001318491.2:c.1949= NM_001318491.2:c.1949A>G
IFT88 transcript variant 3 NM_001318491.1:c.1949= NM_001318491.1:c.1949A>G
IFT88 transcript variant 20 NM_001353579.2:c.1373= NM_001353579.2:c.1373A>G
IFT88 transcript variant 20 NM_001353579.1:c.1373= NM_001353579.1:c.1373A>G
IFT88 transcript variant 12 NM_001353571.2:c.1904= NM_001353571.2:c.1904A>G
IFT88 transcript variant 12 NM_001353571.1:c.1904= NM_001353571.1:c.1904A>G
IFT88 transcript variant 13 NM_001353572.2:c.2006= NM_001353572.2:c.2006A>G
IFT88 transcript variant 13 NM_001353572.1:c.2006= NM_001353572.1:c.2006A>G
IFT88 transcript variant 14 NM_001353573.2:c.1862= NM_001353573.2:c.1862A>G
IFT88 transcript variant 14 NM_001353573.1:c.1862= NM_001353573.1:c.1862A>G
IFT88 transcript variant 15 NM_001353574.2:c.1847= NM_001353574.2:c.1847A>G
IFT88 transcript variant 15 NM_001353574.1:c.1847= NM_001353574.1:c.1847A>G
IFT88 transcript variant 19 NM_001353578.2:c.1904= NM_001353578.2:c.1904A>G
IFT88 transcript variant 19 NM_001353578.1:c.1904= NM_001353578.1:c.1904A>G
IFT88 transcript variant 24 NR_148465.2:n.1492= NR_148465.2:n.1492A>G
IFT88 transcript variant 24 NR_148465.1:n.1833= NR_148465.1:n.1833A>G
IFT88 transcript variant X2 XM_047430655.1:c.2006= XM_047430655.1:c.2006A>G
IFT88 transcript variant X4 XM_047430656.1:c.1976= XM_047430656.1:c.1976A>G
IFT88 transcript variant X8 XM_047430660.1:c.1946= XM_047430660.1:c.1946A>G
IFT88 transcript variant X9 XM_047430661.1:c.1931= XM_047430661.1:c.1931A>G
IFT88 transcript variant X17 XM_047430667.1:c.1889= XM_047430667.1:c.1889A>G
IFT88 transcript variant X5 XM_047430657.1:c.1976= XM_047430657.1:c.1976A>G
IFT88 transcript variant X21 XM_047430670.1:c.1844= XM_047430670.1:c.1844A>G
IFT88 transcript variant X22 XM_047430671.1:c.1844= XM_047430671.1:c.1844A>G
IFT88 transcript variant X7 XM_047430659.1:c.1946= XM_047430659.1:c.1946A>G
IFT88 transcript variant X11 XM_047430662.1:c.2033= XM_047430662.1:c.2033A>G
IFT88 transcript variant X20 XM_047430669.1:c.1976= XM_047430669.1:c.1976A>G
IFT88 transcript variant X19 XM_047430668.1:c.1874= XM_047430668.1:c.1874A>G
IFT88 transcript variant X6 XM_047430658.1:c.1949= XM_047430658.1:c.1949A>G
IFT88 transcript variant X12 XM_047430663.1:c.1919= XM_047430663.1:c.1919A>G
IFT88 transcript variant X15 XM_047430665.1:c.1904= XM_047430665.1:c.1904A>G
IFT88 transcript variant X16 XM_047430666.1:c.2006= XM_047430666.1:c.2006A>G
IFT88 transcript variant X13 XM_047430664.1:c.2033= XM_047430664.1:c.2033A>G
IFT88 transcript variant X23 XM_047430672.1:c.1949= XM_047430672.1:c.1949A>G
IFT88 transcript variant X24 XM_047430673.1:c.1817= XM_047430673.1:c.1817A>G
IFT88 transcript variant X25 XM_047430674.1:c.1919= XM_047430674.1:c.1919A>G
IFT88 transcript variant X26 XM_047430675.1:c.1760= XM_047430675.1:c.1760A>G
IFT88 transcript variant X27 XM_047430676.1:c.2033= XM_047430676.1:c.2033A>G
IFT88 transcript variant X29 XR_007063700.1:n.1877= XR_007063700.1:n.1877A>G
intraflagellar transport protein 88 homolog isoform 1 NP_783195.2:p.Asn678= NP_783195.2:p.Asn678Ser
intraflagellar transport protein 88 homolog isoform 2 NP_006522.2:p.Asn669= NP_006522.2:p.Asn669Ser
intraflagellar transport protein 88 homolog isoform X1 XP_006719933.1:p.Asn669= XP_006719933.1:p.Asn669Ser
intraflagellar transport protein 88 homolog isoform 2 NP_001340497.1:p.Asn669= NP_001340497.1:p.Asn669Ser
intraflagellar transport protein 88 homolog isoform X8 XP_016876252.1:p.Asn678= XP_016876252.1:p.Asn678Ser
intraflagellar transport protein 88 homolog isoform X1 XP_016876246.1:p.Asn669= XP_016876246.1:p.Asn669Ser
intraflagellar transport protein 88 homolog isoform 1 NP_001305422.1:p.Asn678= NP_001305422.1:p.Asn678Ser
intraflagellar transport protein 88 homolog isoform 1 NP_001340495.1:p.Asn678= NP_001340495.1:p.Asn678Ser
intraflagellar transport protein 88 homolog isoform X6 XP_016876251.1:p.Asn678= XP_016876251.1:p.Asn678Ser
intraflagellar transport protein 88 homolog isoform X12 XP_024305181.1:p.Asn625= XP_024305181.1:p.Asn625Ser
intraflagellar transport protein 88 homolog isoform 5 NP_001340499.1:p.Asn644= NP_001340499.1:p.Asn644Ser
intraflagellar transport protein 88 homolog isoform 1 NP_001340494.1:p.Asn678= NP_001340494.1:p.Asn678Ser
intraflagellar transport protein 88 homolog isoform 1 NP_001340496.1:p.Asn678= NP_001340496.1:p.Asn678Ser
intraflagellar transport protein 88 homolog isoform 11 NP_001340505.1:p.Asn644= NP_001340505.1:p.Asn644Ser
intraflagellar transport protein 88 homolog isoform 5 NP_001340498.1:p.Asn644= NP_001340498.1:p.Asn644Ser
intraflagellar transport protein 88 homolog isoform 11 NP_001340506.1:p.Asn644= NP_001340506.1:p.Asn644Ser
intraflagellar transport protein 88 homolog isoform 10 NP_001340504.1:p.Asn650= NP_001340504.1:p.Asn650Ser
intraflagellar transport protein 88 homolog isoform 3 NP_001305420.1:p.Asn650= NP_001305420.1:p.Asn650Ser
intraflagellar transport protein 88 homolog isoform 13 NP_001340508.1:p.Asn458= NP_001340508.1:p.Asn458Ser
intraflagellar transport protein 88 homolog isoform 6 NP_001340500.1:p.Asn635= NP_001340500.1:p.Asn635Ser
intraflagellar transport protein 88 homolog isoform 7 NP_001340501.1:p.Asn669= NP_001340501.1:p.Asn669Ser
intraflagellar transport protein 88 homolog isoform 8 NP_001340502.1:p.Asn621= NP_001340502.1:p.Asn621Ser
intraflagellar transport protein 88 homolog isoform 9 NP_001340503.1:p.Asn616= NP_001340503.1:p.Asn616Ser
intraflagellar transport protein 88 homolog isoform 12 NP_001340507.1:p.Asn635= NP_001340507.1:p.Asn635Ser
intraflagellar transport protein 88 homolog isoform X1 XP_047286611.1:p.Asn669= XP_047286611.1:p.Asn669Ser
intraflagellar transport protein 88 homolog isoform X2 XP_047286612.1:p.Asn659= XP_047286612.1:p.Asn659Ser
intraflagellar transport protein 88 homolog isoform X4 XP_047286616.1:p.Asn649= XP_047286616.1:p.Asn649Ser
intraflagellar transport protein 88 homolog isoform X5 XP_047286617.1:p.Asn644= XP_047286617.1:p.Asn644Ser
intraflagellar transport protein 88 homolog isoform X11 XP_047286623.1:p.Asn630= XP_047286623.1:p.Asn630Ser
intraflagellar transport protein 88 homolog isoform X2 XP_047286613.1:p.Asn659= XP_047286613.1:p.Asn659Ser
intraflagellar transport protein 88 homolog isoform X14 XP_047286626.1:p.Asn615= XP_047286626.1:p.Asn615Ser
intraflagellar transport protein 88 homolog isoform X14 XP_047286627.1:p.Asn615= XP_047286627.1:p.Asn615Ser
intraflagellar transport protein 88 homolog isoform X4 XP_047286615.1:p.Asn649= XP_047286615.1:p.Asn649Ser
intraflagellar transport protein 88 homolog isoform X6 XP_047286618.1:p.Asn678= XP_047286618.1:p.Asn678Ser
intraflagellar transport protein 88 homolog isoform X13 XP_047286625.1:p.Asn659= XP_047286625.1:p.Asn659Ser
intraflagellar transport protein 88 homolog isoform X12 XP_047286624.1:p.Asn625= XP_047286624.1:p.Asn625Ser
intraflagellar transport protein 88 homolog isoform X3 XP_047286614.1:p.Asn650= XP_047286614.1:p.Asn650Ser
intraflagellar transport protein 88 homolog isoform X7 XP_047286619.1:p.Asn640= XP_047286619.1:p.Asn640Ser
intraflagellar transport protein 88 homolog isoform X9 XP_047286621.1:p.Asn635= XP_047286621.1:p.Asn635Ser
intraflagellar transport protein 88 homolog isoform X10 XP_047286622.1:p.Asn669= XP_047286622.1:p.Asn669Ser
intraflagellar transport protein 88 homolog isoform X8 XP_047286620.1:p.Asn678= XP_047286620.1:p.Asn678Ser
intraflagellar transport protein 88 homolog isoform X15 XP_047286628.1:p.Asn650= XP_047286628.1:p.Asn650Ser
intraflagellar transport protein 88 homolog isoform X16 XP_047286629.1:p.Asn606= XP_047286629.1:p.Asn606Ser
intraflagellar transport protein 88 homolog isoform X17 XP_047286630.1:p.Asn640= XP_047286630.1:p.Asn640Ser
intraflagellar transport protein 88 homolog isoform X18 XP_047286631.1:p.Asn587= XP_047286631.1:p.Asn587Ser
intraflagellar transport protein 88 homolog isoform X19 XP_047286632.1:p.Asn678= XP_047286632.1:p.Asn678Ser
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#.

2 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2749014327 Nov 08, 2017 (151)
2 GNOMAD ss2917274439 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000013.11 - 20656368 Apr 26, 2021 (155)
4 ALFA NC_000013.11 - 20656368 Apr 26, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2749014327, ss2917274439 NC_000013.10:21230506:A:G NC_000013.11:20656367:A:G (self)
424696102, 1787588833 NC_000013.11:20656367:A:G NC_000013.11:20656367:A:G (self)
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 rs1472259377

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