SNP Links for Protein (Select 767914929) - SNP - NCBI

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Links from Protein

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Select item 14897707381.

rs1489770738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:46941694 (GRCh38)
2:47168833 (GRCh37)
Canonical SPDI:: NC_000002.12:46941693:C:G,NC_000002.12:46941693:C:T
Gene:: TTC7A (Varview), MCFD2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46941694C>G, NC_000002.12:g.46941694C>T, NC_000002.11:g.47168833C>G, NC_000002.11:g.47168833C>T, NG_034143.2:g.30566C>G, NG_034143.2:g.30566C>T, NM_020458.4:c.153C>G, NM_020458.4:c.153C>T, NM_020458.3:c.153C>G, NM_020458.3:c.153C>T, NM_020458.2:c.153C>G, NM_020458.2:c.153C>T, NM_001288951.2:c.153C>G, NM_001288951.2:c.153C>T, NM_001288951.1:c.153C>G, NM_001288951.1:c.153C>T, NM_001288955.2:c.-752C>G, NM_001288955.2:c.-752C>T, NM_001288955.1:c.-752C>G, NM_001288955.1:c.-752C>T, NG_016428.2:g.5162G>C, NG_016428.2:g.5162G>A, NM_001171511.3:c.-31G>C, NM_001171511.3:c.-31G>A, NM_001171511.2:c.-31G>C, NM_001171511.2:c.-31G>A, NM_001171508.2:c.-129G>C, NM_001171508.2:c.-129G>A, XM_011532999.3:c.153C>G, XM_011532999.3:c.153C>T, XM_011532999.2:c.153C>G, XM_011532999.2:c.153C>T, XM_011532999.1:c.153C>G, XM_011532999.1:c.153C>T, XM_017004524.2:c.153C>G, XM_017004524.2:c.153C>T, XM_017004524.1:c.153C>G, XM_017004524.1:c.153C>T, XM_017004526.2:c.153C>G, XM_017004526.2:c.153C>T, XM_017004526.1:c.153C>G, XM_017004526.1:c.153C>T, XM_047445146.1:c.153C>G, XM_047445146.1:c.153C>T, XR_007078570.1:n.471C>G, XR_007078570.1:n.471C>T, XM_047445147.1:c.153C>G, XM_047445147.1:c.153C>T, XM_047445149.1:c.153C>G, XM_047445149.1:c.153C>T, XM_047445150.1:c.153C>G, XM_047445150.1:c.153C>T, NP_065191.2:p.Ser51Arg, NP_001275880.1:p.Ser51Arg, XP_011531301.1:p.Ser51Arg, XP_016860013.1:p.Ser51Arg, XP_016860015.1:p.Ser51Arg, XP_047301102.1:p.Ser51Arg, XP_047301103.1:p.Ser51Arg, XP_047301105.1:p.Ser51Arg, XP_047301106.1:p.Ser51Arg

Select item 14896028332.

rs1489602833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46978897 (GRCh38)
2:47206036 (GRCh37)
Canonical SPDI:: NC_000002.12:46978896:C:T
Gene:: TTC7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46978897C>T, NC_000002.11:g.47206036C>T, NG_034143.2:g.67769C>T, NM_020458.4:c.754C>T, NM_020458.3:c.754C>T, NM_020458.2:c.754C>T, NM_001288953.2:c.652C>T, NM_001288953.1:c.652C>T, NM_001288951.2:c.754C>T, NM_001288951.1:c.754C>T, NM_001288955.2:c.-151C>T, NM_001288955.1:c.-151C>T, XM_011533000.4:c.-27C>T, XM_011533000.3:c.-27C>T, XM_011533000.2:c.-27C>T, XM_011533000.1:c.-27C>T, XM_011532999.3:c.754C>T, XM_011532999.2:c.754C>T, XM_011532999.1:c.754C>T, XM_017004525.2:c.586C>T, XM_017004525.1:c.586C>T, XM_017004524.2:c.754C>T, XM_017004524.1:c.754C>T, XM_017004526.2:c.754C>T, XM_017004526.1:c.754C>T, XM_047445146.1:c.754C>T, XM_047445148.1:c.490C>T, XM_047445145.1:c.397C>T, XR_007078570.1:n.1072C>T, XM_047445147.1:c.754C>T, XM_047445149.1:c.754C>T, XM_047445150.1:c.754C>T

Select item 14889686033.

rs1488968603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47029289 (GRCh38)
2:47256428 (GRCh37)
Canonical SPDI:: NC_000002.12:47029288:C:T
Gene:: TTC7A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.47029289C>T, NC_000002.11:g.47256428C>T, NG_034143.2:g.118161C>T, NM_020458.4:c.1707C>T, NM_020458.3:c.1707C>T, NM_020458.2:c.1707C>T, NM_001288953.2:c.1605C>T, NM_001288953.1:c.1605C>T, NM_001288951.2:c.1707C>T, NM_001288951.1:c.1707C>T, NM_001288955.2:c.645C>T, NM_001288955.1:c.645C>T, XM_011533000.4:c.927C>T, XM_011533000.3:c.927C>T, XM_011533000.2:c.927C>T, XM_011533000.1:c.927C>T, XM_011533001.4:c.660C>T, XM_011533001.3:c.660C>T, XM_011533001.2:c.660C>T, XM_011533001.1:c.660C>T, XM_011532999.3:c.1707C>T, XM_011532999.2:c.1707C>T, XM_011532999.1:c.1707C>T, XM_017004525.2:c.1539C>T, XM_017004525.1:c.1539C>T, XM_017004524.2:c.1707C>T, XM_017004524.1:c.1707C>T, XM_017004526.2:c.1458C>T, XM_017004526.1:c.1458C>T, XM_024453013.2:c.672C>T, XM_024453013.1:c.672C>T, XM_047445146.1:c.1458C>T, XM_047445148.1:c.1443C>T, XM_047445145.1:c.1350C>T, XR_007078570.1:n.2025C>T, XM_047445147.1:c.1707C>T, XM_047445149.1:c.1707C>T

Select item 14857769294.

rs1485776929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46950454 (GRCh38)
2:47177593 (GRCh37)
Canonical SPDI:: NC_000002.12:46950453:G:A
Gene:: TTC7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.46950454G>A, NC_000002.11:g.47177593G>A, NG_034143.2:g.39326G>A, NM_020458.4:c.276G>A, NM_020458.3:c.276G>A, NM_020458.2:c.276G>A, NM_001288953.2:c.174G>A, NM_001288953.1:c.174G>A, NM_001288951.2:c.276G>A, NM_001288951.1:c.276G>A, NM_001288955.2:c.-629G>A, NM_001288955.1:c.-629G>A, XM_011532999.3:c.276G>A, XM_011532999.2:c.276G>A, XM_011532999.1:c.276G>A, XM_017004525.2:c.108G>A, XM_017004525.1:c.108G>A, XM_017004524.2:c.276G>A, XM_017004524.1:c.276G>A, XM_017004526.2:c.276G>A, XM_017004526.1:c.276G>A, XM_047445146.1:c.276G>A, XM_047445148.1:c.12G>A, XR_007078570.1:n.594G>A, XM_047445147.1:c.276G>A, XM_047445149.1:c.276G>A, XM_047445150.1:c.276G>A

Select item 14855329695.

rs1485532969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47029257 (GRCh38)
2:47256396 (GRCh37)
Canonical SPDI:: NC_000002.12:47029256:C:T
Gene:: TTC7A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.47029257C>T, NC_000002.11:g.47256396C>T, NG_034143.2:g.118129C>T, NM_020458.4:c.1675C>T, NM_020458.3:c.1675C>T, NM_020458.2:c.1675C>T, NM_001288953.2:c.1573C>T, NM_001288953.1:c.1573C>T, NM_001288951.2:c.1675C>T, NM_001288951.1:c.1675C>T, NM_001288955.2:c.613C>T, NM_001288955.1:c.613C>T, XM_011533000.4:c.895C>T, XM_011533000.3:c.895C>T, XM_011533000.2:c.895C>T, XM_011533000.1:c.895C>T, XM_011533001.4:c.628C>T, XM_011533001.3:c.628C>T, XM_011533001.2:c.628C>T, XM_011533001.1:c.628C>T, XM_011532999.3:c.1675C>T, XM_011532999.2:c.1675C>T, XM_011532999.1:c.1675C>T, XM_017004525.2:c.1507C>T, XM_017004525.1:c.1507C>T, XM_017004524.2:c.1675C>T, XM_017004524.1:c.1675C>T, XM_017004526.2:c.1426C>T, XM_017004526.1:c.1426C>T, XM_024453013.2:c.640C>T, XM_024453013.1:c.640C>T, XM_047445146.1:c.1426C>T, XM_047445148.1:c.1411C>T, XM_047445145.1:c.1318C>T, XR_007078570.1:n.1993C>T, XM_047445147.1:c.1675C>T, XM_047445149.1:c.1675C>T

Select item 14829373416.

rs1482937341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47049985 (GRCh38)
2:47277124 (GRCh37)
Canonical SPDI:: NC_000002.12:47049984:C:T
Gene:: TTC7A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.47049985C>T, NC_000002.11:g.47277124C>T, NG_034143.2:g.138857C>T, NM_020458.4:c.1956C>T, NM_020458.3:c.1956C>T, NM_020458.2:c.1956C>T, NM_001288953.2:c.1854C>T, NM_001288953.1:c.1854C>T, NM_001288951.2:c.2028C>T, NM_001288951.1:c.2028C>T, NM_001288955.2:c.894C>T, NM_001288955.1:c.894C>T, XM_011533000.4:c.1176C>T, XM_011533000.3:c.1176C>T, XM_011533000.2:c.1176C>T, XM_011533000.1:c.1176C>T, XM_011533001.4:c.909C>T, XM_011533001.3:c.909C>T, XM_011533001.2:c.909C>T, XM_011533001.1:c.909C>T, XM_011532999.3:c.1956C>T, XM_011532999.2:c.1956C>T, XM_011532999.1:c.1956C>T, XM_017004525.2:c.1788C>T, XM_017004525.1:c.1788C>T, XM_017004524.2:c.1839C>T, XM_017004524.1:c.1839C>T, XM_017004526.2:c.1707C>T, XM_017004526.1:c.1707C>T, XM_024453013.2:c.921C>T, XM_024453013.1:c.921C>T, XM_047445146.1:c.1590C>T, XM_047445148.1:c.1692C>T, XM_047445145.1:c.1599C>T, XR_007078570.1:n.2274C>T

Select item 14820087697.

rs1482008769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46993474 (GRCh38)
2:47220613 (GRCh37)
Canonical SPDI:: NC_000002.12:46993473:G:A
Gene:: TTC7A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.46993474G>A, NC_000002.11:g.47220613G>A, NG_034143.2:g.82346G>A, NM_020458.4:c.789G>A, NM_020458.3:c.789G>A, NM_020458.2:c.789G>A, NM_001288953.2:c.687G>A, NM_001288953.1:c.687G>A, NM_001288951.2:c.789G>A, NM_001288951.1:c.789G>A, NM_001288955.2:c.-116G>A, NM_001288955.1:c.-116G>A, XM_011533000.4:c.9G>A, XM_011533000.3:c.9G>A, XM_011533000.2:c.9G>A, XM_011533000.1:c.9G>A, XM_011532999.3:c.789G>A, XM_011532999.2:c.789G>A, XM_011532999.1:c.789G>A, XM_017004525.2:c.621G>A, XM_017004525.1:c.621G>A, XM_017004524.2:c.789G>A, XM_017004524.1:c.789G>A, XM_017004526.2:c.789G>A, XM_017004526.1:c.789G>A, XM_047445146.1:c.789G>A, XM_047445148.1:c.525G>A, XM_047445145.1:c.432G>A, XR_007078570.1:n.1107G>A, XM_047445147.1:c.789G>A, XM_047445149.1:c.789G>A, XM_047445150.1:c.789G>A

Select item 14795971978.

rs1479597197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47011417 (GRCh38)
2:47238556 (GRCh37)
Canonical SPDI:: NC_000002.12:47011416:C:T
Gene:: TTC7A (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.47011417C>T, NC_000002.11:g.47238556C>T, NG_034143.2:g.100289C>T, NM_020458.4:c.1374C>T, NM_020458.3:c.1374C>T, NM_020458.2:c.1374C>T, NM_001288953.2:c.1272C>T, NM_001288953.1:c.1272C>T, NM_001288951.2:c.1374C>T, NM_001288951.1:c.1374C>T, NM_001288955.2:c.312C>T, NM_001288955.1:c.312C>T, XM_011533000.4:c.594C>T, XM_011533000.3:c.594C>T, XM_011533000.2:c.594C>T, XM_011533000.1:c.594C>T, XM_011533001.4:c.327C>T, XM_011533001.3:c.327C>T, XM_011533001.2:c.327C>T, XM_011533001.1:c.327C>T, XM_011532999.3:c.1374C>T, XM_011532999.2:c.1374C>T, XM_011532999.1:c.1374C>T, XM_017004525.2:c.1206C>T, XM_017004525.1:c.1206C>T, XM_017004524.2:c.1374C>T, XM_017004524.1:c.1374C>T, XM_017004526.2:c.1374C>T, XM_017004526.1:c.1374C>T, XM_024453013.2:c.339C>T, XM_024453013.1:c.339C>T, XM_047445146.1:c.1374C>T, XM_047445148.1:c.1110C>T, XM_047445145.1:c.1017C>T, XR_007078570.1:n.1692C>T, XM_047445147.1:c.1374C>T, XM_047445149.1:c.1374C>T, XM_047445150.1:c.1374C>T

Select item 14793316699.

rs1479331669 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:46941576 (GRCh38)
2:47168715 (GRCh37)
Canonical SPDI:: NC_000002.12:46941575:A:G
Gene:: TTC7A (Varview), MCFD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46941576A>G, NC_000002.11:g.47168715A>G, NG_034143.2:g.30448A>G, NM_020458.4:c.35A>G, NM_020458.3:c.35A>G, NM_020458.2:c.35A>G, NM_001288951.2:c.35A>G, NM_001288951.1:c.35A>G, NM_001288955.2:c.-870A>G, NM_001288955.1:c.-870A>G, NG_016428.2:g.5280T>C, NM_001171511.3:c.88T>C, NM_001171511.2:c.88T>C, NM_001171508.2:c.-11T>C, XM_011532999.3:c.35A>G, XM_011532999.2:c.35A>G, XM_011532999.1:c.35A>G, XM_017004524.2:c.35A>G, XM_017004524.1:c.35A>G, XM_017004526.2:c.35A>G, XM_017004526.1:c.35A>G, XM_047445146.1:c.35A>G, XR_007078570.1:n.353A>G, XM_047445147.1:c.35A>G, XM_047445149.1:c.35A>G, XM_047445150.1:c.35A>G, NP_065191.2:p.Lys12Arg, NP_001275880.1:p.Lys12Arg, NP_001164982.1:p.Phe30Leu, XP_011531301.1:p.Lys12Arg, XP_016860013.1:p.Lys12Arg, XP_016860015.1:p.Lys12Arg, XP_047301102.1:p.Lys12Arg, XP_047301103.1:p.Lys12Arg, XP_047301105.1:p.Lys12Arg, XP_047301106.1:p.Lys12Arg

Select item 147860758310.

rs1478607583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46993496 (GRCh38)
2:47220635 (GRCh37)
Canonical SPDI:: NC_000002.12:46993495:G:A
Gene:: TTC7A (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.46993496G>A, NC_000002.11:g.47220635G>A, NG_034143.2:g.82368G>A, NM_020458.4:c.811G>A, NM_020458.3:c.811G>A, NM_020458.2:c.811G>A, NM_001288953.2:c.709G>A, NM_001288953.1:c.709G>A, NM_001288951.2:c.811G>A, NM_001288951.1:c.811G>A, NM_001288955.2:c.-94G>A, NM_001288955.1:c.-94G>A, XM_011533000.4:c.31G>A, XM_011533000.3:c.31G>A, XM_011533000.2:c.31G>A, XM_011533000.1:c.31G>A, XM_011532999.3:c.811G>A, XM_011532999.2:c.811G>A, XM_011532999.1:c.811G>A, XM_017004525.2:c.643G>A, XM_017004525.1:c.643G>A, XM_017004524.2:c.811G>A, XM_017004524.1:c.811G>A, XM_017004526.2:c.811G>A, XM_017004526.1:c.811G>A, XM_047445146.1:c.811G>A, XM_047445148.1:c.547G>A, XM_047445145.1:c.454G>A, XR_007078570.1:n.1129G>A, XM_047445147.1:c.811G>A, XM_047445149.1:c.811G>A, XM_047445150.1:c.811G>A, NP_065191.2:p.Val271Met, NP_001275882.1:p.Val237Met, NP_001275880.1:p.Val271Met, XP_011531302.1:p.Val11Met, XP_011531301.1:p.Val271Met, XP_016860014.1:p.Val215Met, XP_016860013.1:p.Val271Met, XP_016860015.1:p.Val271Met, XP_047301102.1:p.Val271Met, XP_047301104.1:p.Val183Met, XP_047301101.1:p.Val152Met, XP_047301103.1:p.Val271Met, XP_047301105.1:p.Val271Met, XP_047301106.1:p.Val271Met

Select item 147758840511.

rs1477588405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47050365 (GRCh38)
2:47277504 (GRCh37)
Canonical SPDI:: NC_000002.12:47050364:G:A
Gene:: TTC7A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.47050365G>A, NC_000002.11:g.47277504G>A, NG_034143.2:g.139237G>A, XM_011532999.3:c.2043G>A, XM_011532999.2:c.2043G>A, XM_011532999.1:c.2043G>A

Select item 147623307212.

rs1476233072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46941574 (GRCh38)
2:47168713 (GRCh37)
Canonical SPDI:: NC_000002.12:46941573:G:A
Gene:: TTC7A (Varview), MCFD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
HGVS:: NC_000002.12:g.46941574G>A, NC_000002.11:g.47168713G>A, NG_034143.2:g.30446G>A, NM_020458.4:c.33G>A, NM_020458.3:c.33G>A, NM_020458.2:c.33G>A, NM_001288951.2:c.33G>A, NM_001288951.1:c.33G>A, NM_001288955.2:c.-872G>A, NM_001288955.1:c.-872G>A, NG_016428.2:g.5282C>T, NM_001171511.3:c.90C>T, NM_001171511.2:c.90C>T, NM_001171508.2:c.-9C>T, XM_011532999.3:c.33G>A, XM_011532999.2:c.33G>A, XM_011532999.1:c.33G>A, XM_017004524.2:c.33G>A, XM_017004524.1:c.33G>A, XM_017004526.2:c.33G>A, XM_017004526.1:c.33G>A, XM_047445146.1:c.33G>A, XR_007078570.1:n.351G>A, XM_047445147.1:c.33G>A, XM_047445149.1:c.33G>A, XM_047445150.1:c.33G>A

Select item 147603175813.

rs1476031758 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 2:46950369 (GRCh38)
2:47177508 (GRCh37)
Canonical SPDI:: NC_000002.12:46950367:TTT:T,NC_000002.12:46950367:TTT:TT
Gene:: TTC7A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa
MAF:: TTT=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.46950369_46950370del, NC_000002.12:g.46950370del, NC_000002.11:g.47177508_47177509del, NC_000002.11:g.47177509del, NG_034143.2:g.39241_39242del, NG_034143.2:g.39242del, NM_020458.4:c.191_192del, NM_020458.4:c.192del, NM_020458.3:c.191_192del, NM_020458.3:c.192del, NM_020458.2:c.191_192del, NM_020458.2:c.192del, NM_001288953.2:c.89_90del, NM_001288953.2:c.90del, NM_001288953.1:c.89_90del, NM_001288953.1:c.90del, NM_001288951.2:c.191_192del, NM_001288951.2:c.192del, NM_001288951.1:c.191_192del, NM_001288951.1:c.192del, NM_001288955.2:c.-714_-713del, NM_001288955.2:c.-713del, NM_001288955.1:c.-714_-713del, NM_001288955.1:c.-713del, XM_011532999.3:c.191_192del, XM_011532999.3:c.192del, XM_011532999.2:c.191_192del, XM_011532999.2:c.192del, XM_011532999.1:c.191_192del, XM_011532999.1:c.192del, XM_017004525.2:c.23_24del, XM_017004525.2:c.24del, XM_017004525.1:c.23_24del, XM_017004525.1:c.24del, XM_017004524.2:c.191_192del, XM_017004524.2:c.192del, XM_017004524.1:c.191_192del, XM_017004524.1:c.192del, XM_017004526.2:c.191_192del, XM_017004526.2:c.192del, XM_017004526.1:c.191_192del, XM_017004526.1:c.192del, XM_047445146.1:c.191_192del, XM_047445146.1:c.192del, XM_047445148.1:c.-74_-73del, XM_047445148.1:c.-73del, XR_007078570.1:n.509_510del, XR_007078570.1:n.510del, XM_047445147.1:c.191_192del, XM_047445147.1:c.192del, XM_047445149.1:c.191_192del, XM_047445149.1:c.192del, XM_047445150.1:c.191_192del, XM_047445150.1:c.192del, NP_065191.2:p.Phe64fs, NP_065191.2:p.Phe64fs, NP_001275882.1:p.Phe30fs, NP_001275882.1:p.Phe30fs, NP_001275880.1:p.Phe64fs, NP_001275880.1:p.Phe64fs, XP_011531301.1:p.Phe64fs, XP_011531301.1:p.Phe64fs, XP_016860014.1:p.Phe8fs, XP_016860014.1:p.Phe8fs, XP_016860013.1:p.Phe64fs, XP_016860013.1:p.Phe64fs, XP_016860015.1:p.Phe64fs, XP_016860015.1:p.Phe64fs, XP_047301102.1:p.Phe64fs, XP_047301102.1:p.Phe64fs, XP_047301103.1:p.Phe64fs, XP_047301103.1:p.Phe64fs, XP_047301105.1:p.Phe64fs, XP_047301105.1:p.Phe64fs, XP_047301106.1:p.Phe64fs, XP_047301106.1:p.Phe64fs

Select item 147346227014.

rs1473462270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:47029316 (GRCh38)
2:47256455 (GRCh37)
Canonical SPDI:: NC_000002.12:47029315:C:T
Gene:: TTC7A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.47029316C>T, NC_000002.11:g.47256455C>T, NG_034143.2:g.118188C>T, NM_020458.4:c.1734C>T, NM_020458.3:c.1734C>T, NM_020458.2:c.1734C>T, NM_001288953.2:c.1632C>T, NM_001288953.1:c.1632C>T, NM_001288951.2:c.1734C>T, NM_001288951.1:c.1734C>T, NM_001288955.2:c.672C>T, NM_001288955.1:c.672C>T, XM_011533000.4:c.954C>T, XM_011533000.3:c.954C>T, XM_011533000.2:c.954C>T, XM_011533000.1:c.954C>T, XM_011533001.4:c.687C>T, XM_011533001.3:c.687C>T, XM_011533001.2:c.687C>T, XM_011533001.1:c.687C>T, XM_011532999.3:c.1734C>T, XM_011532999.2:c.1734C>T, XM_011532999.1:c.1734C>T, XM_017004525.2:c.1566C>T, XM_017004525.1:c.1566C>T, XM_017004524.2:c.1734C>T, XM_017004524.1:c.1734C>T, XM_017004526.2:c.1485C>T, XM_017004526.1:c.1485C>T, XM_024453013.2:c.699C>T, XM_024453013.1:c.699C>T, XM_047445146.1:c.1485C>T, XM_047445148.1:c.1470C>T, XM_047445145.1:c.1377C>T, XR_007078570.1:n.2052C>T, XM_047445147.1:c.1734C>T, XM_047445149.1:c.1734C>T

Select item 147313826515.

rs1473138265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:47024324 (GRCh38)
2:47251463 (GRCh37)
Canonical SPDI:: NC_000002.12:47024323:C:A,NC_000002.12:47024323:C:T
Gene:: TTC7A (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.47024324C>A, NC_000002.12:g.47024324C>T, NC_000002.11:g.47251463C>A, NC_000002.11:g.47251463C>T, NG_034143.2:g.113196C>A, NG_034143.2:g.113196C>T, NM_020458.4:c.1606C>A, NM_020458.4:c.1606C>T, NM_020458.3:c.1606C>A, NM_020458.3:c.1606C>T, NM_020458.2:c.1606C>A, NM_020458.2:c.1606C>T, NM_001288953.2:c.1504C>A, NM_001288953.2:c.1504C>T, NM_001288953.1:c.1504C>A, NM_001288953.1:c.1504C>T, NM_001288951.2:c.1606C>A, NM_001288951.2:c.1606C>T, NM_001288951.1:c.1606C>A, NM_001288951.1:c.1606C>T, NM_001288955.2:c.544C>A, NM_001288955.2:c.544C>T, NM_001288955.1:c.544C>A, NM_001288955.1:c.544C>T, XM_011533000.4:c.826C>A, XM_011533000.4:c.826C>T, XM_011533000.3:c.826C>A, XM_011533000.3:c.826C>T, XM_011533000.2:c.826C>A, XM_011533000.2:c.826C>T, XM_011533000.1:c.826C>A, XM_011533000.1:c.826C>T, XM_011533001.4:c.559C>A, XM_011533001.4:c.559C>T, XM_011533001.3:c.559C>A, XM_011533001.3:c.559C>T, XM_011533001.2:c.559C>A, XM_011533001.2:c.559C>T, XM_011533001.1:c.559C>A, XM_011533001.1:c.559C>T, XM_011532999.3:c.1606C>A, XM_011532999.3:c.1606C>T, XM_011532999.2:c.1606C>A, XM_011532999.2:c.1606C>T, XM_011532999.1:c.1606C>A, XM_011532999.1:c.1606C>T, XM_017004525.2:c.1438C>A, XM_017004525.2:c.1438C>T, XM_017004525.1:c.1438C>A, XM_017004525.1:c.1438C>T, XM_017004524.2:c.1606C>A, XM_017004524.2:c.1606C>T, XM_017004524.1:c.1606C>A, XM_017004524.1:c.1606C>T, XM_024453013.2:c.571C>A, XM_024453013.2:c.571C>T, XM_024453013.1:c.571C>A, XM_024453013.1:c.571C>T, XM_047445148.1:c.1342C>A, XM_047445148.1:c.1342C>T, XM_047445145.1:c.1249C>A, XM_047445145.1:c.1249C>T, XR_007078570.1:n.1924C>A, XR_007078570.1:n.1924C>T, XM_047445147.1:c.1606C>A, XM_047445147.1:c.1606C>T, XM_047445149.1:c.1606C>A, XM_047445149.1:c.1606C>T, XM_047445150.1:c.*87C>A, XM_047445150.1:c.*87C>T, NP_065191.2:p.Leu536Ile, NP_065191.2:p.Leu536Phe, NP_001275882.1:p.Leu502Ile, NP_001275882.1:p.Leu502Phe, NP_001275880.1:p.Leu536Ile, NP_001275880.1:p.Leu536Phe, NP_001275884.1:p.Leu182Ile, NP_001275884.1:p.Leu182Phe, XP_011531302.1:p.Leu276Ile, XP_011531302.1:p.Leu276Phe, XP_011531303.1:p.Leu187Ile, XP_011531303.1:p.Leu187Phe, XP_011531301.1:p.Leu536Ile, XP_011531301.1:p.Leu536Phe, XP_016860014.1:p.Leu480Ile, XP_016860014.1:p.Leu480Phe, XP_016860013.1:p.Leu536Ile, XP_016860013.1:p.Leu536Phe, XP_024308781.1:p.Leu191Ile, XP_024308781.1:p.Leu191Phe, XP_047301104.1:p.Leu448Ile, XP_047301104.1:p.Leu448Phe, XP_047301101.1:p.Leu417Ile, XP_047301101.1:p.Leu417Phe, XP_047301103.1:p.Leu536Ile, XP_047301103.1:p.Leu536Phe, XP_047301105.1:p.Leu536Ile, XP_047301105.1:p.Leu536Phe

Select item 147193760016.

rs1471937600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:46941641 (GRCh38)
2:47168780 (GRCh37)
Canonical SPDI:: NC_000002.12:46941640:C:G,NC_000002.12:46941640:C:T
Gene:: TTC7A (Varview), MCFD2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.46941641C>G, NC_000002.12:g.46941641C>T, NC_000002.11:g.47168780C>G, NC_000002.11:g.47168780C>T, NG_034143.2:g.30513C>G, NG_034143.2:g.30513C>T, NM_020458.4:c.100C>G, NM_020458.4:c.100C>T, NM_020458.3:c.100C>G, NM_020458.3:c.100C>T, NM_020458.2:c.100C>G, NM_020458.2:c.100C>T, NM_001288951.2:c.100C>G, NM_001288951.2:c.100C>T, NM_001288951.1:c.100C>G, NM_001288951.1:c.100C>T, NM_001288955.2:c.-805C>G, NM_001288955.2:c.-805C>T, NM_001288955.1:c.-805C>G, NM_001288955.1:c.-805C>T, NG_016428.2:g.5215G>C, NG_016428.2:g.5215G>A, NM_001171511.3:c.23G>C, NM_001171511.3:c.23G>A, NM_001171511.2:c.23G>C, NM_001171511.2:c.23G>A, NM_001171508.2:c.-76G>C, NM_001171508.2:c.-76G>A, XM_011532999.3:c.100C>G, XM_011532999.3:c.100C>T, XM_011532999.2:c.100C>G, XM_011532999.2:c.100C>T, XM_011532999.1:c.100C>G, XM_011532999.1:c.100C>T, XM_017004524.2:c.100C>G, XM_017004524.2:c.100C>T, XM_017004524.1:c.100C>G, XM_017004524.1:c.100C>T, XM_017004526.2:c.100C>G, XM_017004526.2:c.100C>T, XM_017004526.1:c.100C>G, XM_017004526.1:c.100C>T, XM_047445146.1:c.100C>G, XM_047445146.1:c.100C>T, XR_007078570.1:n.418C>G, XR_007078570.1:n.418C>T, XM_047445147.1:c.100C>G, XM_047445147.1:c.100C>T, XM_047445149.1:c.100C>G, XM_047445149.1:c.100C>T, XM_047445150.1:c.100C>G, XM_047445150.1:c.100C>T, NP_065191.2:p.Arg34Gly, NP_065191.2:p.Arg34Trp, NP_001275880.1:p.Arg34Gly, NP_001275880.1:p.Arg34Trp, NP_001164982.1:p.Arg8Pro, NP_001164982.1:p.Arg8Gln, XP_011531301.1:p.Arg34Gly, XP_011531301.1:p.Arg34Trp, XP_016860013.1:p.Arg34Gly, XP_016860013.1:p.Arg34Trp, XP_016860015.1:p.Arg34Gly, XP_016860015.1:p.Arg34Trp, XP_047301102.1:p.Arg34Gly, XP_047301102.1:p.Arg34Trp, XP_047301103.1:p.Arg34Gly, XP_047301103.1:p.Arg34Trp, XP_047301105.1:p.Arg34Gly, XP_047301105.1:p.Arg34Trp, XP_047301106.1:p.Arg34Gly, XP_047301106.1:p.Arg34Trp

Select item 147184563417.

rs1471845634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46994420 (GRCh38)
2:47221559 (GRCh37)
Canonical SPDI:: NC_000002.12:46994419:C:T
Gene:: TTC7A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46994420C>T, NC_000002.11:g.47221559C>T, NG_034143.2:g.83292C>T, NM_020458.4:c.907C>T, NM_020458.3:c.907C>T, NM_020458.2:c.907C>T, NM_001288953.2:c.805C>T, NM_001288953.1:c.805C>T, NM_001288951.2:c.907C>T, NM_001288951.1:c.907C>T, XM_011533000.4:c.127C>T, XM_011533000.3:c.127C>T, XM_011533000.2:c.127C>T, XM_011533000.1:c.127C>T, XM_011532999.3:c.907C>T, XM_011532999.2:c.907C>T, XM_011532999.1:c.907C>T, XM_017004525.2:c.739C>T, XM_017004525.1:c.739C>T, XM_017004524.2:c.907C>T, XM_017004524.1:c.907C>T, XM_017004526.2:c.907C>T, XM_017004526.1:c.907C>T, XM_047445146.1:c.907C>T, XM_047445148.1:c.643C>T, XM_047445145.1:c.550C>T, XR_007078570.1:n.1225C>T, XM_047445147.1:c.907C>T, XM_047445149.1:c.907C>T, XM_047445150.1:c.907C>T, NP_065191.2:p.Pro303Ser, NP_001275882.1:p.Pro269Ser, NP_001275880.1:p.Pro303Ser, XP_011531302.1:p.Pro43Ser, XP_011531301.1:p.Pro303Ser, XP_016860014.1:p.Pro247Ser, XP_016860013.1:p.Pro303Ser, XP_016860015.1:p.Pro303Ser, XP_047301102.1:p.Pro303Ser, XP_047301104.1:p.Pro215Ser, XP_047301101.1:p.Pro184Ser, XP_047301103.1:p.Pro303Ser, XP_047301105.1:p.Pro303Ser, XP_047301106.1:p.Pro303Ser

Select item 147141946518.

rs1471419465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46994372 (GRCh38)
2:47221511 (GRCh37)
Canonical SPDI:: NC_000002.12:46994371:C:T
Gene:: TTC7A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000002.12:g.46994372C>T, NC_000002.11:g.47221511C>T, NG_034143.2:g.83244C>T, NM_020458.4:c.859C>T, NM_020458.3:c.859C>T, NM_020458.2:c.859C>T, NM_001288953.2:c.757C>T, NM_001288953.1:c.757C>T, NM_001288951.2:c.859C>T, NM_001288951.1:c.859C>T, XM_011533000.4:c.79C>T, XM_011533000.3:c.79C>T, XM_011533000.2:c.79C>T, XM_011533000.1:c.79C>T, XM_011532999.3:c.859C>T, XM_011532999.2:c.859C>T, XM_011532999.1:c.859C>T, XM_017004525.2:c.691C>T, XM_017004525.1:c.691C>T, XM_017004524.2:c.859C>T, XM_017004524.1:c.859C>T, XM_017004526.2:c.859C>T, XM_017004526.1:c.859C>T, XM_047445146.1:c.859C>T, XM_047445148.1:c.595C>T, XM_047445145.1:c.502C>T, XR_007078570.1:n.1177C>T, XM_047445147.1:c.859C>T, XM_047445149.1:c.859C>T, XM_047445150.1:c.859C>T

Select item 146917692919.

rs1469176929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46994364 (GRCh38)
2:47221503 (GRCh37)
Canonical SPDI:: NC_000002.12:46994363:C:T
Gene:: TTC7A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000002.12:g.46994364C>T, NC_000002.11:g.47221503C>T, NG_034143.2:g.83236C>T, NM_020458.4:c.851C>T, NM_020458.3:c.851C>T, NM_020458.2:c.851C>T, NM_001288953.2:c.749C>T, NM_001288953.1:c.749C>T, NM_001288951.2:c.851C>T, NM_001288951.1:c.851C>T, XM_011533000.4:c.71C>T, XM_011533000.3:c.71C>T, XM_011533000.2:c.71C>T, XM_011533000.1:c.71C>T, XM_011532999.3:c.851C>T, XM_011532999.2:c.851C>T, XM_011532999.1:c.851C>T, XM_017004525.2:c.683C>T, XM_017004525.1:c.683C>T, XM_017004524.2:c.851C>T, XM_017004524.1:c.851C>T, XM_017004526.2:c.851C>T, XM_017004526.1:c.851C>T, XM_047445146.1:c.851C>T, XM_047445148.1:c.587C>T, XM_047445145.1:c.494C>T, XR_007078570.1:n.1169C>T, XM_047445147.1:c.851C>T, XM_047445149.1:c.851C>T, XM_047445150.1:c.851C>T, NP_065191.2:p.Ala284Val, NP_001275882.1:p.Ala250Val, NP_001275880.1:p.Ala284Val, XP_011531302.1:p.Ala24Val, XP_011531301.1:p.Ala284Val, XP_016860014.1:p.Ala228Val, XP_016860013.1:p.Ala284Val, XP_016860015.1:p.Ala284Val, XP_047301102.1:p.Ala284Val, XP_047301104.1:p.Ala196Val, XP_047301101.1:p.Ala165Val, XP_047301103.1:p.Ala284Val, XP_047301105.1:p.Ala284Val, XP_047301106.1:p.Ala284Val

Select item 146868473920.

rs1468684739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:46978896 (GRCh38)
2:47206035 (GRCh37)
Canonical SPDI:: NC_000002.12:46978895:C:G
Gene:: TTC7A (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.46978896C>G, NC_000002.11:g.47206035C>G, NG_034143.2:g.67768C>G, NM_020458.4:c.753C>G, NM_020458.3:c.753C>G, NM_020458.2:c.753C>G, NM_001288953.2:c.651C>G, NM_001288953.1:c.651C>G, NM_001288951.2:c.753C>G, NM_001288951.1:c.753C>G, NM_001288955.2:c.-152C>G, NM_001288955.1:c.-152C>G, XM_011533000.4:c.-28C>G, XM_011533000.3:c.-28C>G, XM_011533000.2:c.-28C>G, XM_011533000.1:c.-28C>G, XM_011532999.3:c.753C>G, XM_011532999.2:c.753C>G, XM_011532999.1:c.753C>G, XM_017004525.2:c.585C>G, XM_017004525.1:c.585C>G, XM_017004524.2:c.753C>G, XM_017004524.1:c.753C>G, XM_017004526.2:c.753C>G, XM_017004526.1:c.753C>G, XM_047445146.1:c.753C>G, XM_047445148.1:c.489C>G, XM_047445145.1:c.396C>G, XR_007078570.1:n.1071C>G, XM_047445147.1:c.753C>G, XM_047445149.1:c.753C>G, XM_047445150.1:c.753C>G, NP_065191.2:p.Asn251Lys, NP_001275882.1:p.Asn217Lys, NP_001275880.1:p.Asn251Lys, XP_011531301.1:p.Asn251Lys, XP_016860014.1:p.Asn195Lys, XP_016860013.1:p.Asn251Lys, XP_016860015.1:p.Asn251Lys, XP_047301102.1:p.Asn251Lys, XP_047301104.1:p.Asn163Lys, XP_047301101.1:p.Asn132Lys, XP_047301103.1:p.Asn251Lys, XP_047301105.1:p.Asn251Lys, XP_047301106.1:p.Asn251Lys

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