Product Details

SNP ID

rs201335180

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:44229656 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCACTGCTGAACTGAGCAAGGACG[C/T]CCAGGCGTCAGCCGCCCCTGCAGCA

Phenotype

MIM: 602193

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SLC29A1 PubMed Links

Gene Details

Gene

SLC29A1

Gene Name

solute carrier family 29 member 1 (Augustine blood group)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001078175.2	475	Missense Mutation	GCC,GTC	A60V	NP_001071643.1
NM_001078177.1	475	Missense Mutation	GCC,GTC	A60V	NP_001071645.1
NM_001304462.1	475	Missense Mutation	GCC,GTC	A139V	NP_001291391.1
NM_001304463.1	475	Missense Mutation	GCC,GTC	A102V	NP_001291392.1
NM_001304465.1	475	Missense Mutation	GCC,GTC	A86V	NP_001291394.1
NM_001304466.1	475	Missense Mutation	GCC,GTC	A85V	NP_001291395.1
XM_005248876.4	475	Missense Mutation	GCC,GTC	A103V	XP_005248933.1
XM_005248878.3	475	Missense Mutation	GCC,GTC	A60V	XP_005248935.1
XM_005248879.3	475	Missense Mutation	GCC,GTC	A60V	XP_005248936.1
XM_005248880.3	475	Missense Mutation	GCC,GTC	A60V	XP_005248937.1
XM_005248881.3	475	Missense Mutation	GCC,GTC	A60V	XP_005248938.1
XM_005248882.3	475	Missense Mutation	GCC,GTC	A60V	XP_005248939.1
XM_011514341.2	475	Missense Mutation	GCC,GTC	A140V	XP_011512643.1

View Full Product Details