Product Details

SNP ID

rs1057947

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.7:8113349 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TCCATAGTAAGGTTTGTGCCTTGGA[C/G]AGAAGCCCAGCTCCTCCACCAGTGT

Phenotype

MIM: 147625

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ICA1 PubMed Links

Gene Details

Gene

ICA1

Gene Name

islet cell autoantigen 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136020.2	2093	UTR 3			NP_001129492.1
NM_001276478.1	2093	UTR 3			NP_001263407.1
NM_004968.3	2093	UTR 3			NP_004959.2
NM_022307.2	2093	UTR 3			NP_071682.1
XM_005249735.3	2093	Intron			XP_005249792.1
XM_011515345.1	2093	Intron			XP_011513647.1
XM_011515346.1	2093	Intron			XP_011513648.1
XM_011515347.2	2093	Intron			XP_011513649.1
XM_011515348.1	2093	Intron			XP_011513650.1
XM_011515349.1	2093	Intron			XP_011513651.1
XM_011515350.1	2093	Intron			XP_011513652.1
XM_011515351.1	2093	Intron			XP_011513653.1
XM_011515352.1	2093	Intron			XP_011513654.1
XM_011515353.2	2093	Intron			XP_011513655.1
XM_011515354.1	2093	Intron			XP_011513656.1
XM_011515355.2	2093	Intron			XP_011513657.1
XM_011515356.2	2093	Intron			XP_011513658.1
XM_011515357.2	2093	Intron			XP_011513659.1
XM_017012116.1	2093	Intron			XP_016867605.1
XM_017012117.1	2093	Intron			XP_016867606.1
XM_017012118.1	2093	Intron			XP_016867607.1
XM_017012119.1	2093	Intron			XP_016867608.1
XM_017012120.1	2093	Intron			XP_016867609.1
XM_017012121.1	2093	Intron			XP_016867610.1
XM_017012122.1	2093	Intron			XP_016867611.1
XM_017012123.1	2093	Intron			XP_016867612.1
XM_017012124.1	2093	Intron			XP_016867613.1
XM_017012125.1	2093	Intron			XP_016867614.1

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