Product Details

SNP ID

rs200923264

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219629320 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCCCATCCAGGAGGAGGGGGGA[A/G]CTGGAGTGGATGAGGAAGAGGAGGA

Phenotype

MIM: 106195

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SLC4A3 PubMed Links

Gene Details

Gene

SLC4A3

Gene Name

solute carrier family 4 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001326559.1	794	Missense Mutation	ACT,GCT	T132A	NP_001313488.1
NM_005070.3	794	Missense Mutation	ACT,GCT	T132A	NP_005061.2
NM_201574.2	794	Missense Mutation	ACT,GCT	T132A	NP_963868.2
XM_005246789.4	794	Missense Mutation	ACT,GCT	T132A	XP_005246846.1
XM_005246790.4	794	Intron			XP_005246847.1
XM_011511665.2	794	Missense Mutation	ACT,GCT	T79A	XP_011509967.1
XM_011511667.2	794	Intron			XP_011509969.1

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