SNP Links for Protein (Select 5032019) - SNP

Links from Protein

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Select item 14868391301.

rs1486839130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:237859703 (GRCh38)
2:238768346 (GRCh37)
Canonical SPDI:: NC_000002.12:237859702:C:A,NC_000002.12:237859702:C:T
Gene:: RAMP1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000028/3 (GnomAD_exomes)
T=0.000042/11 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.237859703C>A, NC_000002.12:g.237859703C>T, NC_000002.11:g.238768346C>A, NC_000002.11:g.238768346C>T, NM_005855.4:c.28C>A, NM_005855.4:c.28C>T, NM_005855.3:c.28C>A, NM_005855.3:c.28C>T, NM_005855.2:c.28C>A, NM_005855.2:c.28C>T, NM_001308353.2:c.-100C>A, NM_001308353.2:c.-100C>T, NM_001308353.1:c.-100C>A, NM_001308353.1:c.-100C>T, NP_005846.1:p.Arg10Trp

Select item 14848784102.

rs1484878410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:237911695 (GRCh38)
2:238820337 (GRCh37)
Canonical SPDI:: NC_000002.12:237911694:A:T
Gene:: RAMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237911695A>T, NC_000002.11:g.238820337A>T, NM_005855.4:c.359A>T, NM_005855.3:c.359A>T, NM_005855.2:c.359A>T, XM_017003156.3:c.293A>T, XM_017003156.2:c.293A>T, XM_017003156.1:c.293A>T, XM_017003153.3:c.293A>T, XM_017003153.2:c.293A>T, XM_017003153.1:c.293A>T, XM_017003152.3:c.293A>T, XM_017003152.2:c.293A>T, XM_017003152.1:c.293A>T, NM_001308353.2:c.293A>T, NM_001308353.1:c.293A>T, NP_005846.1:p.Tyr120Phe, XP_016858645.1:p.Tyr98Phe, XP_016858642.1:p.Tyr98Phe, XP_016858641.1:p.Tyr98Phe, NP_001295282.1:p.Tyr98Phe

Select item 14830614493.

rs1483061449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:237911573 (GRCh38)
2:238820215 (GRCh37)
Canonical SPDI:: NC_000002.12:237911572:G:A,NC_000002.12:237911572:G:T
Gene:: RAMP1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000002.12:g.237911573G>A, NC_000002.12:g.237911573G>T, NC_000002.11:g.238820215G>A, NC_000002.11:g.238820215G>T, NM_005855.4:c.237G>A, NM_005855.4:c.237G>T, NM_005855.3:c.237G>A, NM_005855.3:c.237G>T, NM_005855.2:c.237G>A, NM_005855.2:c.237G>T, XM_017003156.3:c.171G>A, XM_017003156.3:c.171G>T, XM_017003156.2:c.171G>A, XM_017003156.2:c.171G>T, XM_017003156.1:c.171G>A, XM_017003156.1:c.171G>T, XM_017003153.3:c.171G>A, XM_017003153.3:c.171G>T, XM_017003153.2:c.171G>A, XM_017003153.2:c.171G>T, XM_017003153.1:c.171G>A, XM_017003153.1:c.171G>T, XM_017003152.3:c.171G>A, XM_017003152.3:c.171G>T, XM_017003152.2:c.171G>A, XM_017003152.2:c.171G>T, XM_017003152.1:c.171G>A, XM_017003152.1:c.171G>T, NM_001308353.2:c.171G>A, NM_001308353.2:c.171G>T, NM_001308353.1:c.171G>A, NM_001308353.1:c.171G>T, NP_005846.1:p.Lys79Asn, XP_016858645.1:p.Lys57Asn, XP_016858642.1:p.Lys57Asn, XP_016858641.1:p.Lys57Asn, NP_001295282.1:p.Lys57Asn

Select item 14789411074.

rs1478941107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237859687 (GRCh38)
2:238768330 (GRCh37)
Canonical SPDI:: NC_000002.12:237859686:C:T
Gene:: RAMP1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_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.237859687C>T, NC_000002.11:g.238768330C>T, NM_005855.4:c.12C>T, NM_005855.3:c.12C>T, NM_005855.2:c.12C>T, NM_001308353.2:c.-116C>T, NM_001308353.1:c.-116C>T

Select item 14537266895.

rs1453726689 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237911715 (GRCh38)
2:238820357 (GRCh37)
Canonical SPDI:: NC_000002.12:237911714:A:G
Gene:: RAMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237911715A>G, NC_000002.11:g.238820357A>G, NM_005855.4:c.379A>G, NM_005855.3:c.379A>G, NM_005855.2:c.379A>G, XM_017003156.3:c.313A>G, XM_017003156.2:c.313A>G, XM_017003156.1:c.313A>G, XM_017003153.3:c.313A>G, XM_017003153.2:c.313A>G, XM_017003153.1:c.313A>G, XM_017003152.3:c.313A>G, XM_017003152.2:c.313A>G, XM_017003152.1:c.313A>G, NM_001308353.2:c.313A>G, NM_001308353.1:c.313A>G, NP_005846.1:p.Ile127Val, XP_016858645.1:p.Ile105Val, XP_016858642.1:p.Ile105Val, XP_016858641.1:p.Ile105Val, NP_001295282.1:p.Ile105Val

Select item 14449057846.

rs1444905784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237911536 (GRCh38)
2:238820178 (GRCh37)
Canonical SPDI:: NC_000002.12:237911535:G:A
Gene:: RAMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237911536G>A, NC_000002.11:g.238820178G>A, NM_005855.4:c.200G>A, NM_005855.3:c.200G>A, NM_005855.2:c.200G>A, XM_017003156.3:c.134G>A, XM_017003156.2:c.134G>A, XM_017003156.1:c.134G>A, XM_017003153.3:c.134G>A, XM_017003153.2:c.134G>A, XM_017003153.1:c.134G>A, XM_017003152.3:c.134G>A, XM_017003152.2:c.134G>A, XM_017003152.1:c.134G>A, NM_001308353.2:c.134G>A, NM_001308353.1:c.134G>A, NP_005846.1:p.Arg67Lys, XP_016858645.1:p.Arg45Lys, XP_016858642.1:p.Arg45Lys, XP_016858641.1:p.Arg45Lys, NP_001295282.1:p.Arg45Lys

Select item 14379108177.

rs1437910817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:237911556 (GRCh38)
2:238820198 (GRCh37)
Canonical SPDI:: NC_000002.12:237911555:T:C
Gene:: RAMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237911556T>C, NC_000002.11:g.238820198T>C, NM_005855.4:c.220T>C, NM_005855.3:c.220T>C, NM_005855.2:c.220T>C, XM_017003156.3:c.154T>C, XM_017003156.2:c.154T>C, XM_017003156.1:c.154T>C, XM_017003153.3:c.154T>C, XM_017003153.2:c.154T>C, XM_017003153.1:c.154T>C, XM_017003152.3:c.154T>C, XM_017003152.2:c.154T>C, XM_017003152.1:c.154T>C, NM_001308353.2:c.154T>C, NM_001308353.1:c.154T>C, NP_005846.1:p.Trp74Arg, XP_016858645.1:p.Trp52Arg, XP_016858642.1:p.Trp52Arg, XP_016858641.1:p.Trp52Arg, NP_001295282.1:p.Trp52Arg

Select item 14332278908.

rs1433227890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237911758 (GRCh38)
2:238820400 (GRCh37)
Canonical SPDI:: NC_000002.12:237911757:G:A
Gene:: RAMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.237911758G>A, NC_000002.11:g.238820400G>A, NM_005855.4:c.422G>A, NM_005855.3:c.422G>A, NM_005855.2:c.422G>A, XM_017003156.3:c.356G>A, XM_017003156.2:c.356G>A, XM_017003156.1:c.356G>A, XM_017003153.3:c.356G>A, XM_017003153.2:c.356G>A, XM_017003153.1:c.356G>A, XM_017003152.3:c.356G>A, XM_017003152.2:c.356G>A, XM_017003152.1:c.356G>A, NM_001308353.2:c.356G>A, NM_001308353.1:c.356G>A, NP_005846.1:p.Ser141Asn, XP_016858645.1:p.Ser119Asn, XP_016858642.1:p.Ser119Asn, XP_016858641.1:p.Ser119Asn, NP_001295282.1:p.Ser119Asn

Select item 14265098529.

rs1426509852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237911652 (GRCh38)
2:238820294 (GRCh37)
Canonical SPDI:: NC_000002.12:237911651:A:G
Gene:: RAMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.237911652A>G, NC_000002.11:g.238820294A>G, NM_005855.4:c.316A>G, NM_005855.3:c.316A>G, NM_005855.2:c.316A>G, XM_017003156.3:c.250A>G, XM_017003156.2:c.250A>G, XM_017003156.1:c.250A>G, XM_017003153.3:c.250A>G, XM_017003153.2:c.250A>G, XM_017003153.1:c.250A>G, XM_017003152.3:c.250A>G, XM_017003152.2:c.250A>G, XM_017003152.1:c.250A>G, NM_001308353.2:c.250A>G, NM_001308353.1:c.250A>G, NP_005846.1:p.Ile106Val, XP_016858645.1:p.Ile84Val, XP_016858642.1:p.Ile84Val, XP_016858641.1:p.Ile84Val, NP_001295282.1:p.Ile84Val

Select item 141716987010.

rs1417169870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:237911710 (GRCh38)
2:238820352 (GRCh37)
Canonical SPDI:: NC_000002.12:237911709:T:A
Gene:: RAMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000343/1 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.237911710T>A, NC_000002.11:g.238820352T>A, NM_005855.4:c.374T>A, NM_005855.3:c.374T>A, NM_005855.2:c.374T>A, XM_017003156.3:c.308T>A, XM_017003156.2:c.308T>A, XM_017003156.1:c.308T>A, XM_017003153.3:c.308T>A, XM_017003153.2:c.308T>A, XM_017003153.1:c.308T>A, XM_017003152.3:c.308T>A, XM_017003152.2:c.308T>A, XM_017003152.1:c.308T>A, NM_001308353.2:c.308T>A, NM_001308353.1:c.308T>A, NP_005846.1:p.Val125Asp, XP_016858645.1:p.Val103Asp, XP_016858642.1:p.Val103Asp, XP_016858641.1:p.Val103Asp, NP_001295282.1:p.Val103Asp

Select item 141171439111.

rs1411714391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237911587 (GRCh38)
2:238820229 (GRCh37)
Canonical SPDI:: NC_000002.12:237911586:G:A
Gene:: RAMP1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237911587G>A, NC_000002.11:g.238820229G>A, NM_005855.4:c.251G>A, NM_005855.3:c.251G>A, NM_005855.2:c.251G>A, XM_017003156.3:c.185G>A, XM_017003156.2:c.185G>A, XM_017003156.1:c.185G>A, XM_017003153.3:c.185G>A, XM_017003153.2:c.185G>A, XM_017003153.1:c.185G>A, XM_017003152.3:c.185G>A, XM_017003152.2:c.185G>A, XM_017003152.1:c.185G>A, NM_001308353.2:c.185G>A, NM_001308353.1:c.185G>A, NP_005846.1:p.Trp84Ter, XP_016858645.1:p.Trp62Ter, XP_016858642.1:p.Trp62Ter, XP_016858641.1:p.Trp62Ter, NP_001295282.1:p.Trp62Ter

Select item 140977674112.

rs1409776741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237859727 (GRCh38)
2:238768370 (GRCh37)
Canonical SPDI:: NC_000002.12:237859726:G:A
Gene:: RAMP1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237859727G>A, NC_000002.11:g.238768370G>A, NM_005855.4:c.52G>A, NM_005855.3:c.52G>A, NM_005855.2:c.52G>A, NM_001308353.2:c.-76G>A, NM_001308353.1:c.-76G>A, NP_005846.1:p.Ala18Thr