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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.

rs767840362

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:237552404 (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>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000007 (1/140140, GnomAD)
A=0.00002 (1/44420, ALFA)
T=0.00002 (1/44420, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MLPH : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 44420 C=0.99995 A=0.00002, G=0.00000, T=0.00002
European Sub 32650 C=0.99994 A=0.00003, G=0.00000, T=0.00003
African Sub 3512 C=1.0000 A=0.0000, G=0.0000, T=0.0000
African Others Sub 122 C=1.000 A=0.000, G=0.000, T=0.000
African American Sub 3390 C=1.0000 A=0.0000, G=0.0000, T=0.0000
Asian Sub 168 C=1.000 A=0.000, G=0.000, T=0.000
East Asian Sub 112 C=1.000 A=0.000, G=0.000, T=0.000
Other Asian Sub 56 C=1.00 A=0.00, G=0.00, T=0.00
Latin American 1 Sub 500 C=1.000 A=0.000, G=0.000, T=0.000
Latin American 2 Sub 628 C=1.000 A=0.000, G=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, G=0.00, T=0.00
Other Sub 6864 C=1.0000 A=0.0000, G=0.0000, T=0.0000


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 140140 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75914 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 41978 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13644 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 44420 C=0.99995 A=0.00002, G=0.00000, T=0.00002
Allele Frequency Aggregator European Sub 32650 C=0.99994 A=0.00003, G=0.00000, T=0.00003
Allele Frequency Aggregator Other Sub 6864 C=1.0000 A=0.0000, G=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 3512 C=1.0000 A=0.0000, G=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 168 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, G=0.00, T=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 2 NC_000002.12:g.237552404C>A
GRCh38.p14 chr 2 NC_000002.12:g.237552404C>G
GRCh38.p14 chr 2 NC_000002.12:g.237552404C>T
GRCh37.p13 chr 2 NC_000002.11:g.238461047C>A
GRCh37.p13 chr 2 NC_000002.11:g.238461047C>G
GRCh37.p13 chr 2 NC_000002.11:g.238461047C>T
MLPH RefSeqGene (LRG_83) NG_007286.1:g.70118C>A
MLPH RefSeqGene (LRG_83) NG_007286.1:g.70118C>G
MLPH RefSeqGene (LRG_83) NG_007286.1:g.70118C>T
Gene: MLPH, melanophilin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MLPH transcript variant 1 NM_024101.7:c.1743C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform 1 NP_077006.1:p.Asn581Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant 1 NM_024101.7:c.1743C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform 1 NP_077006.1:p.Asn581Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant 1 NM_024101.7:c.1743C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform 1 NP_077006.1:p.Asn581= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant 4 NM_001281474.2:c.1314C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform 4 NP_001268403.1:p.Asn438Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant 4 NM_001281474.2:c.1314C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform 4 NP_001268403.1:p.Asn438Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant 4 NM_001281474.2:c.1314C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform 4 NP_001268403.1:p.Asn438= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant 3 NM_001281473.2:c.1383C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform 3 NP_001268402.1:p.Asn461Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant 3 NM_001281473.2:c.1383C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform 3 NP_001268402.1:p.Asn461Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant 3 NM_001281473.2:c.1383C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform 3 NP_001268402.1:p.Asn461= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant 2 NM_001042467.3:c.1659C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform 2 NP_001035932.1:p.Asn553Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant 2 NM_001042467.3:c.1659C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform 2 NP_001035932.1:p.Asn553Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant 2 NM_001042467.3:c.1659C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform 2 NP_001035932.1:p.Asn553= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant 5 NR_104019.2:n.2143C>A N/A Non Coding Transcript Variant
MLPH transcript variant 5 NR_104019.2:n.2143C>G N/A Non Coding Transcript Variant
MLPH transcript variant 5 NR_104019.2:n.2143C>T N/A Non Coding Transcript Variant
MLPH transcript variant X7 XM_017004894.2:c. N/A Genic Downstream Transcript Variant
MLPH transcript variant X4 XM_047445807.1:c. N/A Genic Downstream Transcript Variant
MLPH transcript variant X11 XM_047445810.1:c. N/A Genic Downstream Transcript Variant
MLPH transcript variant X1 XM_017004893.2:c.1743C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X1 XP_016860382.1:p.Asn581Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X1 XM_017004893.2:c.1743C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X1 XP_016860382.1:p.Asn581Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X1 XM_017004893.2:c.1743C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X1 XP_016860382.1:p.Asn581= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant X2 XM_047445806.1:c.1659C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X2 XP_047301762.1:p.Asn553Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X2 XM_047445806.1:c.1659C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X2 XP_047301762.1:p.Asn553Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X2 XM_047445806.1:c.1659C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X2 XP_047301762.1:p.Asn553= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant X3 XM_006712737.2:c.1623C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X3 XP_006712800.1:p.Asn541Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X3 XM_006712737.2:c.1623C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X3 XP_006712800.1:p.Asn541Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X3 XM_006712737.2:c.1623C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X3 XP_006712800.1:p.Asn541= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant X5 XM_006712739.2:c.1587C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X5 XP_006712802.1:p.Asn529Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X5 XM_006712739.2:c.1587C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X5 XP_006712802.1:p.Asn529Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X5 XM_006712739.2:c.1587C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X5 XP_006712802.1:p.Asn529= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant X6 XM_006712740.2:c.1539C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X6 XP_006712803.1:p.Asn513Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X6 XM_006712740.2:c.1539C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X6 XP_006712803.1:p.Asn513Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X6 XM_006712740.2:c.1539C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X6 XP_006712803.1:p.Asn513= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant X8 XM_047445808.1:c.1503C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X8 XP_047301764.1:p.Asn501Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X8 XM_047445808.1:c.1503C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X8 XP_047301764.1:p.Asn501Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X8 XM_047445808.1:c.1503C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X8 XP_047301764.1:p.Asn501= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant X9 XM_047445809.1:c.1467C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X9 XP_047301765.1:p.Asn489Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X9 XM_047445809.1:c.1467C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X9 XP_047301765.1:p.Asn489Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X9 XM_047445809.1:c.1467C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X9 XP_047301765.1:p.Asn489= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant X10 XM_011511812.2:c.1308C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X10 XP_011510114.1:p.Asn436Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X10 XM_011511812.2:c.1308C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X10 XP_011510114.1:p.Asn436Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X10 XM_011511812.2:c.1308C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X10 XP_011510114.1:p.Asn436= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant X12 XM_047445811.1:c.1224C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X12 XP_047301767.1:p.Asn408Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X12 XM_047445811.1:c.1224C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X12 XP_047301767.1:p.Asn408Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X12 XM_047445811.1:c.1224C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X12 XP_047301767.1:p.Asn408= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant X13 XM_047445812.1:c.1188C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X13 XP_047301768.1:p.Asn396Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X13 XM_047445812.1:c.1188C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X13 XP_047301768.1:p.Asn396Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X13 XM_047445812.1:c.1188C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X13 XP_047301768.1:p.Asn396= N (Asn) > N (Asn) Synonymous Variant
MLPH transcript variant X14 XM_047445813.1:c.1104C>A N [AAC] > K [AAA] Coding Sequence Variant
melanophilin isoform X14 XP_047301769.1:p.Asn368Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X14 XM_047445813.1:c.1104C>G N [AAC] > K [AAG] Coding Sequence Variant
melanophilin isoform X14 XP_047301769.1:p.Asn368Lys N (Asn) > K (Lys) Missense Variant
MLPH transcript variant X14 XM_047445813.1:c.1104C>T N [AAC] > N [AAT] Coding Sequence Variant
melanophilin isoform X14 XP_047301769.1:p.Asn368= N (Asn) > N (Asn) Synonymous 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= A G T
GRCh38.p14 chr 2 NC_000002.12:g.237552404= NC_000002.12:g.237552404C>A NC_000002.12:g.237552404C>G NC_000002.12:g.237552404C>T
GRCh37.p13 chr 2 NC_000002.11:g.238461047= NC_000002.11:g.238461047C>A NC_000002.11:g.238461047C>G NC_000002.11:g.238461047C>T
MLPH RefSeqGene (LRG_83) NG_007286.1:g.70118= NG_007286.1:g.70118C>A NG_007286.1:g.70118C>G NG_007286.1:g.70118C>T
MLPH transcript variant 1 NM_024101.7:c.1743= NM_024101.7:c.1743C>A NM_024101.7:c.1743C>G NM_024101.7:c.1743C>T
MLPH transcript variant 1 NM_024101.6:c.1743= NM_024101.6:c.1743C>A NM_024101.6:c.1743C>G NM_024101.6:c.1743C>T
MLPH transcript variant 2 NM_001042467.3:c.1659= NM_001042467.3:c.1659C>A NM_001042467.3:c.1659C>G NM_001042467.3:c.1659C>T
MLPH transcript variant 2 NM_001042467.2:c.1659= NM_001042467.2:c.1659C>A NM_001042467.2:c.1659C>G NM_001042467.2:c.1659C>T
MLPH transcript variant 5 NR_104019.2:n.2143= NR_104019.2:n.2143C>A NR_104019.2:n.2143C>G NR_104019.2:n.2143C>T
MLPH transcript variant 5 NR_104019.1:n.2175= NR_104019.1:n.2175C>A NR_104019.1:n.2175C>G NR_104019.1:n.2175C>T
MLPH transcript variant 4 NM_001281474.2:c.1314= NM_001281474.2:c.1314C>A NM_001281474.2:c.1314C>G NM_001281474.2:c.1314C>T
MLPH transcript variant 4 NM_001281474.1:c.1314= NM_001281474.1:c.1314C>A NM_001281474.1:c.1314C>G NM_001281474.1:c.1314C>T
MLPH transcript variant 3 NM_001281473.2:c.1383= NM_001281473.2:c.1383C>A NM_001281473.2:c.1383C>G NM_001281473.2:c.1383C>T
MLPH transcript variant 3 NM_001281473.1:c.1383= NM_001281473.1:c.1383C>A NM_001281473.1:c.1383C>G NM_001281473.1:c.1383C>T
MLPH transcript variant X10 XM_011511812.2:c.1308= XM_011511812.2:c.1308C>A XM_011511812.2:c.1308C>G XM_011511812.2:c.1308C>T
MLPH transcript variant X6 XM_011511812.1:c.1308= XM_011511812.1:c.1308C>A XM_011511812.1:c.1308C>G XM_011511812.1:c.1308C>T
MLPH transcript variant X1 XM_017004893.2:c.1743= XM_017004893.2:c.1743C>A XM_017004893.2:c.1743C>G XM_017004893.2:c.1743C>T
MLPH transcript variant X1 XM_017004893.1:c.1743= XM_017004893.1:c.1743C>A XM_017004893.1:c.1743C>G XM_017004893.1:c.1743C>T
MLPH transcript variant X3 XM_006712737.2:c.1623= XM_006712737.2:c.1623C>A XM_006712737.2:c.1623C>G XM_006712737.2:c.1623C>T
MLPH transcript variant X2 XM_006712737.1:c.1623= XM_006712737.1:c.1623C>A XM_006712737.1:c.1623C>G XM_006712737.1:c.1623C>T
MLPH transcript variant X5 XM_006712739.2:c.1587= XM_006712739.2:c.1587C>A XM_006712739.2:c.1587C>G XM_006712739.2:c.1587C>T
MLPH transcript variant X3 XM_006712739.1:c.1587= XM_006712739.1:c.1587C>A XM_006712739.1:c.1587C>G XM_006712739.1:c.1587C>T
MLPH transcript variant X6 XM_006712740.2:c.1539= XM_006712740.2:c.1539C>A XM_006712740.2:c.1539C>G XM_006712740.2:c.1539C>T
MLPH transcript variant X4 XM_006712740.1:c.1539= XM_006712740.1:c.1539C>A XM_006712740.1:c.1539C>G XM_006712740.1:c.1539C>T
MLPH transcript variant X12 XM_047445811.1:c.1224= XM_047445811.1:c.1224C>A XM_047445811.1:c.1224C>G XM_047445811.1:c.1224C>T
MLPH transcript variant X13 XM_047445812.1:c.1188= XM_047445812.1:c.1188C>A XM_047445812.1:c.1188C>G XM_047445812.1:c.1188C>T
MLPH transcript variant X14 XM_047445813.1:c.1104= XM_047445813.1:c.1104C>A XM_047445813.1:c.1104C>G XM_047445813.1:c.1104C>T
MLPH transcript variant X2 XM_047445806.1:c.1659= XM_047445806.1:c.1659C>A XM_047445806.1:c.1659C>G XM_047445806.1:c.1659C>T
MLPH transcript variant X8 XM_047445808.1:c.1503= XM_047445808.1:c.1503C>A XM_047445808.1:c.1503C>G XM_047445808.1:c.1503C>T
MLPH transcript variant X9 XM_047445809.1:c.1467= XM_047445809.1:c.1467C>A XM_047445809.1:c.1467C>G XM_047445809.1:c.1467C>T
melanophilin isoform 1 NP_077006.1:p.Asn581= NP_077006.1:p.Asn581Lys NP_077006.1:p.Asn581Lys NP_077006.1:p.Asn581=
melanophilin isoform 2 NP_001035932.1:p.Asn553= NP_001035932.1:p.Asn553Lys NP_001035932.1:p.Asn553Lys NP_001035932.1:p.Asn553=
melanophilin isoform 4 NP_001268403.1:p.Asn438= NP_001268403.1:p.Asn438Lys NP_001268403.1:p.Asn438Lys NP_001268403.1:p.Asn438=
melanophilin isoform 3 NP_001268402.1:p.Asn461= NP_001268402.1:p.Asn461Lys NP_001268402.1:p.Asn461Lys NP_001268402.1:p.Asn461=
melanophilin isoform X10 XP_011510114.1:p.Asn436= XP_011510114.1:p.Asn436Lys XP_011510114.1:p.Asn436Lys XP_011510114.1:p.Asn436=
melanophilin isoform X1 XP_016860382.1:p.Asn581= XP_016860382.1:p.Asn581Lys XP_016860382.1:p.Asn581Lys XP_016860382.1:p.Asn581=
melanophilin isoform X3 XP_006712800.1:p.Asn541= XP_006712800.1:p.Asn541Lys XP_006712800.1:p.Asn541Lys XP_006712800.1:p.Asn541=
melanophilin isoform X5 XP_006712802.1:p.Asn529= XP_006712802.1:p.Asn529Lys XP_006712802.1:p.Asn529Lys XP_006712802.1:p.Asn529=
melanophilin isoform X6 XP_006712803.1:p.Asn513= XP_006712803.1:p.Asn513Lys XP_006712803.1:p.Asn513Lys XP_006712803.1:p.Asn513=
melanophilin isoform X12 XP_047301767.1:p.Asn408= XP_047301767.1:p.Asn408Lys XP_047301767.1:p.Asn408Lys XP_047301767.1:p.Asn408=
melanophilin isoform X13 XP_047301768.1:p.Asn396= XP_047301768.1:p.Asn396Lys XP_047301768.1:p.Asn396Lys XP_047301768.1:p.Asn396=
melanophilin isoform X14 XP_047301769.1:p.Asn368= XP_047301769.1:p.Asn368Lys XP_047301769.1:p.Asn368Lys XP_047301769.1:p.Asn368=
melanophilin isoform X2 XP_047301762.1:p.Asn553= XP_047301762.1:p.Asn553Lys XP_047301762.1:p.Asn553Lys XP_047301762.1:p.Asn553=
melanophilin isoform X8 XP_047301764.1:p.Asn501= XP_047301764.1:p.Asn501Lys XP_047301764.1:p.Asn501Lys XP_047301764.1:p.Asn501=
melanophilin isoform X9 XP_047301765.1:p.Asn489= XP_047301765.1:p.Asn489Lys XP_047301765.1:p.Asn489Lys XP_047301765.1:p.Asn489=
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#.

9 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1686810048 Apr 01, 2015 (144)
2 EVA_EXAC ss1686810049 Apr 01, 2015 (144)
3 HUMAN_LONGEVITY ss2240408403 Dec 20, 2016 (150)
4 GNOMAD ss2733448366 Nov 08, 2017 (151)
5 GNOMAD ss4063677961 Apr 27, 2021 (155)
6 TOPMED ss4549812781 Apr 27, 2021 (155)
7 TOPMED ss4549812782 Apr 27, 2021 (155)
8 TOPMED ss4549812783 Apr 27, 2021 (155)
9 YY_MCH ss5803355161 Oct 17, 2022 (156)
10 ExAC

Submission ignored due to conflicting rows:
Row 6720152 (NC_000002.11:238461046:C:C 121253/121254, NC_000002.11:238461046:C:A 1/121254)
Row 6720153 (NC_000002.11:238461046:C:C 121251/121254, NC_000002.11:238461046:C:T 3/121254)

- Oct 11, 2018 (152)
11 ExAC

Submission ignored due to conflicting rows:
Row 6720152 (NC_000002.11:238461046:C:C 121253/121254, NC_000002.11:238461046:C:A 1/121254)
Row 6720153 (NC_000002.11:238461046:C:C 121251/121254, NC_000002.11:238461046:C:T 3/121254)

- Oct 11, 2018 (152)
12 gnomAD - Genomes NC_000002.12 - 237552404 Apr 27, 2021 (155)
13 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 2518168 (NC_000002.11:238461046:C:C 251442/251444, NC_000002.11:238461046:C:A 2/251444)
Row 2518169 (NC_000002.11:238461046:C:C 251438/251444, NC_000002.11:238461046:C:T 6/251444)

- Jul 13, 2019 (153)
14 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 2518168 (NC_000002.11:238461046:C:C 251442/251444, NC_000002.11:238461046:C:A 2/251444)
Row 2518169 (NC_000002.11:238461046:C:C 251438/251444, NC_000002.11:238461046:C:T 6/251444)

- Jul 13, 2019 (153)
15 TopMed

Submission ignored due to conflicting rows:
Row 353635660 (NC_000002.12:237552403:C:A 1/264690)
Row 353635661 (NC_000002.12:237552403:C:G 1/264690)
Row 353635662 (NC_000002.12:237552403:C:T 4/264690)

- Apr 27, 2021 (155)
16 TopMed

Submission ignored due to conflicting rows:
Row 353635660 (NC_000002.12:237552403:C:A 1/264690)
Row 353635661 (NC_000002.12:237552403:C:G 1/264690)
Row 353635662 (NC_000002.12:237552403:C:T 4/264690)

- Apr 27, 2021 (155)
17 TopMed

Submission ignored due to conflicting rows:
Row 353635660 (NC_000002.12:237552403:C:A 1/264690)
Row 353635661 (NC_000002.12:237552403:C:G 1/264690)
Row 353635662 (NC_000002.12:237552403:C:T 4/264690)

- Apr 27, 2021 (155)
18 ALFA NC_000002.12 - 237552404 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1686810048, ss2733448366 NC_000002.11:238461046:C:A NC_000002.12:237552403:C:A (self)
12274499250, ss2240408403, ss4549812781 NC_000002.12:237552403:C:A NC_000002.12:237552403:C:A (self)
12274499250, ss4549812782 NC_000002.12:237552403:C:G NC_000002.12:237552403:C:G (self)
ss1686810049, ss2733448366 NC_000002.11:238461046:C:T NC_000002.12:237552403:C:T (self)
95288731, 12274499250, ss4063677961, ss4549812783, ss5803355161 NC_000002.12:237552403:C:T NC_000002.12:237552403:C:T (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 rs767840362

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.post761+d5e8e07