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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.

rs1476041421

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:43154686 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/245814, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TMEM62 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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 - Exomes Global Study-wide 245814 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 133408 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 47476 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 33024 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16122 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9780 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 6004 C=1.0000 T=0.0000
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 15 NC_000015.10:g.43154686C>T
GRCh37.p13 chr 15 NC_000015.9:g.43446884C>T
Gene: TMEM62, transmembrane protein 62 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TMEM62 transcript variant 12 NM_001347014.1:c.647C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform d NP_001333943.1:p.Ser216Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 22 NM_001347025.1:c.422C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform g NP_001333954.1:p.Ser141Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 27 NM_001347030.1:c.380C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform h NP_001333959.1:p.Ser127Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 17 NM_001347019.1:c.422C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform f NP_001333948.1:p.Ser141Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 7 NM_001347009.1:c.641C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform c NP_001333938.1:p.Ser214Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 21 NM_001347024.1:c.422C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform g NP_001333953.1:p.Ser141Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 2 NM_001347004.1:c.647C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform b NP_001333933.1:p.Ser216Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 6 NM_001347008.1:c.641C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform c NP_001333937.1:p.Ser214Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 1 NM_024956.4:c.1037C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform a NP_079232.3:p.Ser346Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 29 NM_001347032.2:c.1037C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform j NP_001333961.1:p.Ser346Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 30 NM_001347033.2:c.770C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform k NP_001333962.1:p.Ser257Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 23 NM_001347026.2:c.422C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform g NP_001333955.1:p.Ser141Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 18 NM_001347020.2:c.422C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform f NP_001333949.1:p.Ser141Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 8 NM_001347010.2:c.641C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform c NP_001333939.1:p.Ser214Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 19 NM_001347021.2:c.422C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform f NP_001333950.1:p.Ser141Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 13 NM_001347015.2:c.647C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform d NP_001333944.1:p.Ser216Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 16 NM_001347018.2:c.641C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform e NP_001333947.1:p.Ser214Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 10 NM_001347012.2:c.641C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform c NP_001333941.1:p.Ser214Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 11 NM_001347013.2:c.641C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform c NP_001333942.1:p.Ser214Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 3 NM_001347005.2:c.647C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform b NP_001333934.1:p.Ser216Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 14 NM_001347016.2:c.647C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform d NP_001333945.1:p.Ser216Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 28 NM_001347031.2:c.770C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform i NP_001333960.1:p.Ser257Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 24 NM_001347027.2:c.422C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform g NP_001333956.1:p.Ser141Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 20 NM_001347023.2:c.422C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform f NP_001333952.1:p.Ser141Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 4 NM_001347006.2:c.647C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform b NP_001333935.1:p.Ser216Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 15 NM_001347017.2:c.641C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform e NP_001333946.1:p.Ser214Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 25 NM_001347028.2:c.422C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform g NP_001333957.1:p.Ser141Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 9 NM_001347011.2:c.641C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform c NP_001333940.1:p.Ser214Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 5 NM_001347007.2:c.647C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform b NP_001333936.1:p.Ser216Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 26 NM_001347029.2:c.422C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform g NP_001333958.1:p.Ser141Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 31 NM_001347034.2:c.413C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform l NP_001333963.1:p.Ser138Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant 32 NR_144541.1:n.1066C>T N/A Non Coding Transcript Variant
TMEM62 transcript variant 34 NR_144543.2:n.1207C>T N/A Non Coding Transcript Variant
TMEM62 transcript variant 35 NR_144544.2:n.1129C>T N/A Non Coding Transcript Variant
TMEM62 transcript variant 33 NR_144542.2:n.1175C>T N/A Non Coding Transcript Variant
TMEM62 transcript variant X7 XM_024450072.2:c. N/A Genic Downstream Transcript Variant
TMEM62 transcript variant X1 XM_047433101.1:c.914C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform X1 XP_047289057.1:p.Ser305Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant X2 XM_047433102.1:c.914C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform X2 XP_047289058.1:p.Ser305Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant X3 XM_047433103.1:c.641C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform X3 XP_047289059.1:p.Ser214Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant X4 XM_047433104.1:c.413C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform X4 XP_047289060.1:p.Ser138Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant X5 XM_047433105.1:c.389C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform X5 XP_047289061.1:p.Ser130Phe S (Ser) > F (Phe) Missense Variant
TMEM62 transcript variant X6 XM_024450071.2:c.380C>T S [TCC] > F [TTC] Coding Sequence Variant
transmembrane protein 62 isoform X6 XP_024305839.1:p.Ser127Phe S (Ser) > F (Phe) Missense 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 C= T
GRCh38.p14 chr 15 NC_000015.10:g.43154686= NC_000015.10:g.43154686C>T
GRCh37.p13 chr 15 NC_000015.9:g.43446884= NC_000015.9:g.43446884C>T
TMEM62 transcript variant 1 NM_024956.4:c.1037= NM_024956.4:c.1037C>T
TMEM62 transcript variant 1 NM_024956.3:c.1037= NM_024956.3:c.1037C>T
TMEM62 transcript variant 4 NM_001347006.2:c.647= NM_001347006.2:c.647C>T
TMEM62 transcript variant 4 NM_001347006.1:c.647= NM_001347006.1:c.647C>T
TMEM62 transcript variant 11 NM_001347013.2:c.641= NM_001347013.2:c.641C>T
TMEM62 transcript variant 11 NM_001347013.1:c.641= NM_001347013.1:c.641C>T
TMEM62 transcript variant 8 NM_001347010.2:c.641= NM_001347010.2:c.641C>T
TMEM62 transcript variant 8 NM_001347010.1:c.641= NM_001347010.1:c.641C>T
TMEM62 transcript variant 13 NM_001347015.2:c.647= NM_001347015.2:c.647C>T
TMEM62 transcript variant 13 NM_001347015.1:c.647= NM_001347015.1:c.647C>T
TMEM62 transcript variant 5 NM_001347007.2:c.647= NM_001347007.2:c.647C>T
TMEM62 transcript variant 5 NM_001347007.1:c.647= NM_001347007.1:c.647C>T
TMEM62 transcript variant 29 NM_001347032.2:c.1037= NM_001347032.2:c.1037C>T
TMEM62 transcript variant 29 NM_001347032.1:c.1037= NM_001347032.1:c.1037C>T
TMEM62 transcript variant 3 NM_001347005.2:c.647= NM_001347005.2:c.647C>T
TMEM62 transcript variant 3 NM_001347005.1:c.647= NM_001347005.1:c.647C>T
TMEM62 transcript variant 10 NM_001347012.2:c.641= NM_001347012.2:c.641C>T
TMEM62 transcript variant 10 NM_001347012.1:c.641= NM_001347012.1:c.641C>T
TMEM62 transcript variant 16 NM_001347018.2:c.641= NM_001347018.2:c.641C>T
TMEM62 transcript variant 16 NM_001347018.1:c.641= NM_001347018.1:c.641C>T
TMEM62 transcript variant 34 NR_144543.2:n.1207= NR_144543.2:n.1207C>T
TMEM62 transcript variant 34 NR_144543.1:n.1269= NR_144543.1:n.1269C>T
TMEM62 transcript variant 9 NM_001347011.2:c.641= NM_001347011.2:c.641C>T
TMEM62 transcript variant 9 NM_001347011.1:c.641= NM_001347011.1:c.641C>T
TMEM62 transcript variant 33 NR_144542.2:n.1175= NR_144542.2:n.1175C>T
TMEM62 transcript variant 33 NR_144542.1:n.1237= NR_144542.1:n.1237C>T
TMEM62 transcript variant 18 NM_001347020.2:c.422= NM_001347020.2:c.422C>T
TMEM62 transcript variant 18 NM_001347020.1:c.422= NM_001347020.1:c.422C>T
TMEM62 transcript variant 14 NM_001347016.2:c.647= NM_001347016.2:c.647C>T
TMEM62 transcript variant 14 NM_001347016.1:c.647= NM_001347016.1:c.647C>T
TMEM62 transcript variant 35 NR_144544.2:n.1129= NR_144544.2:n.1129C>T
TMEM62 transcript variant 35 NR_144544.1:n.1191= NR_144544.1:n.1191C>T
TMEM62 transcript variant 25 NM_001347028.2:c.422= NM_001347028.2:c.422C>T
TMEM62 transcript variant 25 NM_001347028.1:c.422= NM_001347028.1:c.422C>T
TMEM62 transcript variant 15 NM_001347017.2:c.641= NM_001347017.2:c.641C>T
TMEM62 transcript variant 15 NM_001347017.1:c.641= NM_001347017.1:c.641C>T
TMEM62 transcript variant 30 NM_001347033.2:c.770= NM_001347033.2:c.770C>T
TMEM62 transcript variant 30 NM_001347033.1:c.770= NM_001347033.1:c.770C>T
TMEM62 transcript variant 19 NM_001347021.2:c.422= NM_001347021.2:c.422C>T
TMEM62 transcript variant 19 NM_001347021.1:c.422= NM_001347021.1:c.422C>T
TMEM62 transcript variant 23 NM_001347026.2:c.422= NM_001347026.2:c.422C>T
TMEM62 transcript variant 23 NM_001347026.1:c.422= NM_001347026.1:c.422C>T
TMEM62 transcript variant 20 NM_001347023.2:c.422= NM_001347023.2:c.422C>T
TMEM62 transcript variant 20 NM_001347023.1:c.422= NM_001347023.1:c.422C>T
TMEM62 transcript variant 31 NM_001347034.2:c.413= NM_001347034.2:c.413C>T
TMEM62 transcript variant 31 NM_001347034.1:c.413= NM_001347034.1:c.413C>T
TMEM62 transcript variant 28 NM_001347031.2:c.770= NM_001347031.2:c.770C>T
TMEM62 transcript variant 28 NM_001347031.1:c.770= NM_001347031.1:c.770C>T
TMEM62 transcript variant 26 NM_001347029.2:c.422= NM_001347029.2:c.422C>T
TMEM62 transcript variant 26 NM_001347029.1:c.422= NM_001347029.1:c.422C>T
TMEM62 transcript variant X6 XM_024450071.2:c.380= XM_024450071.2:c.380C>T
TMEM62 transcript variant X4 XM_024450071.1:c.380= XM_024450071.1:c.380C>T
TMEM62 transcript variant 24 NM_001347027.2:c.422= NM_001347027.2:c.422C>T
TMEM62 transcript variant 24 NM_001347027.1:c.422= NM_001347027.1:c.422C>T
TMEM62 transcript variant 2 NM_001347004.1:c.647= NM_001347004.1:c.647C>T
TMEM62 transcript variant X1 XM_047433101.1:c.914= XM_047433101.1:c.914C>T
TMEM62 transcript variant 7 NM_001347009.1:c.641= NM_001347009.1:c.641C>T
TMEM62 transcript variant X2 XM_047433102.1:c.914= XM_047433102.1:c.914C>T
TMEM62 transcript variant 6 NM_001347008.1:c.641= NM_001347008.1:c.641C>T
TMEM62 transcript variant 32 NR_144541.1:n.1066= NR_144541.1:n.1066C>T
TMEM62 transcript variant 12 NM_001347014.1:c.647= NM_001347014.1:c.647C>T
TMEM62 transcript variant X3 XM_047433103.1:c.641= XM_047433103.1:c.641C>T
TMEM62 transcript variant 21 NM_001347024.1:c.422= NM_001347024.1:c.422C>T
TMEM62 transcript variant 17 NM_001347019.1:c.422= NM_001347019.1:c.422C>T
TMEM62 transcript variant 22 NM_001347025.1:c.422= NM_001347025.1:c.422C>T
TMEM62 transcript variant 27 NM_001347030.1:c.380= NM_001347030.1:c.380C>T
TMEM62 transcript variant X4 XM_047433104.1:c.413= XM_047433104.1:c.413C>T
TMEM62 transcript variant X5 XM_047433105.1:c.389= XM_047433105.1:c.389C>T
transmembrane protein 62 isoform a NP_079232.3:p.Ser346= NP_079232.3:p.Ser346Phe
transmembrane protein 62 isoform b NP_001333935.1:p.Ser216= NP_001333935.1:p.Ser216Phe
transmembrane protein 62 isoform c NP_001333942.1:p.Ser214= NP_001333942.1:p.Ser214Phe
transmembrane protein 62 isoform c NP_001333939.1:p.Ser214= NP_001333939.1:p.Ser214Phe
transmembrane protein 62 isoform d NP_001333944.1:p.Ser216= NP_001333944.1:p.Ser216Phe
transmembrane protein 62 isoform b NP_001333936.1:p.Ser216= NP_001333936.1:p.Ser216Phe
transmembrane protein 62 isoform j NP_001333961.1:p.Ser346= NP_001333961.1:p.Ser346Phe
transmembrane protein 62 isoform b NP_001333934.1:p.Ser216= NP_001333934.1:p.Ser216Phe
transmembrane protein 62 isoform c NP_001333941.1:p.Ser214= NP_001333941.1:p.Ser214Phe
transmembrane protein 62 isoform e NP_001333947.1:p.Ser214= NP_001333947.1:p.Ser214Phe
transmembrane protein 62 isoform c NP_001333940.1:p.Ser214= NP_001333940.1:p.Ser214Phe
transmembrane protein 62 isoform f NP_001333949.1:p.Ser141= NP_001333949.1:p.Ser141Phe
transmembrane protein 62 isoform d NP_001333945.1:p.Ser216= NP_001333945.1:p.Ser216Phe
transmembrane protein 62 isoform g NP_001333957.1:p.Ser141= NP_001333957.1:p.Ser141Phe
transmembrane protein 62 isoform e NP_001333946.1:p.Ser214= NP_001333946.1:p.Ser214Phe
transmembrane protein 62 isoform k NP_001333962.1:p.Ser257= NP_001333962.1:p.Ser257Phe
transmembrane protein 62 isoform f NP_001333950.1:p.Ser141= NP_001333950.1:p.Ser141Phe
transmembrane protein 62 isoform g NP_001333955.1:p.Ser141= NP_001333955.1:p.Ser141Phe
transmembrane protein 62 isoform f NP_001333952.1:p.Ser141= NP_001333952.1:p.Ser141Phe
transmembrane protein 62 isoform l NP_001333963.1:p.Ser138= NP_001333963.1:p.Ser138Phe
transmembrane protein 62 isoform i NP_001333960.1:p.Ser257= NP_001333960.1:p.Ser257Phe
transmembrane protein 62 isoform g NP_001333958.1:p.Ser141= NP_001333958.1:p.Ser141Phe
transmembrane protein 62 isoform X6 XP_024305839.1:p.Ser127= XP_024305839.1:p.Ser127Phe
transmembrane protein 62 isoform g NP_001333956.1:p.Ser141= NP_001333956.1:p.Ser141Phe
transmembrane protein 62 isoform b NP_001333933.1:p.Ser216= NP_001333933.1:p.Ser216Phe
transmembrane protein 62 isoform X1 XP_047289057.1:p.Ser305= XP_047289057.1:p.Ser305Phe
transmembrane protein 62 isoform c NP_001333938.1:p.Ser214= NP_001333938.1:p.Ser214Phe
transmembrane protein 62 isoform X2 XP_047289058.1:p.Ser305= XP_047289058.1:p.Ser305Phe
transmembrane protein 62 isoform c NP_001333937.1:p.Ser214= NP_001333937.1:p.Ser214Phe
transmembrane protein 62 isoform d NP_001333943.1:p.Ser216= NP_001333943.1:p.Ser216Phe
transmembrane protein 62 isoform X3 XP_047289059.1:p.Ser214= XP_047289059.1:p.Ser214Phe
transmembrane protein 62 isoform g NP_001333953.1:p.Ser141= NP_001333953.1:p.Ser141Phe
transmembrane protein 62 isoform f NP_001333948.1:p.Ser141= NP_001333948.1:p.Ser141Phe
transmembrane protein 62 isoform g NP_001333954.1:p.Ser141= NP_001333954.1:p.Ser141Phe
transmembrane protein 62 isoform h NP_001333959.1:p.Ser127= NP_001333959.1:p.Ser127Phe
transmembrane protein 62 isoform X4 XP_047289060.1:p.Ser138= XP_047289060.1:p.Ser138Phe
transmembrane protein 62 isoform X5 XP_047289061.1:p.Ser130= XP_047289061.1:p.Ser130Phe
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2741188577 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000015.9 - 43446884 Jul 13, 2019 (153)
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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
10452134, ss2741188577 NC_000015.9:43446883:C:T NC_000015.10:43154685:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1476041421

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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
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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