Product Details

SNP ID

rs72555353

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:44229719 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAACTCTCTCAGTGCCATCTTCA[A/G]CAATGTCATGACCCTATGTGCCATG

Phenotype

MIM: 602193

Polymorphism

A/G, 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	538	Missense Mutation	AAC,AGC	N81S	NP_001071643.1
NM_001078177.1	538	Missense Mutation	AAC,AGC	N81S	NP_001071645.1
NM_001304462.1	538	Missense Mutation	AAC,AGC	N160S	NP_001291391.1
NM_001304463.1	538	Missense Mutation	AAC,AGC	N123S	NP_001291392.1
NM_001304465.1	538	Missense Mutation	AAC,AGC	N107S	NP_001291394.1
NM_001304466.1	538	Missense Mutation	AAC,AGC	N106S	NP_001291395.1
XM_005248876.4	538	Missense Mutation	AAC,AGC	N124S	XP_005248933.1
XM_005248878.3	538	Missense Mutation	AAC,AGC	N81S	XP_005248935.1
XM_005248879.3	538	Missense Mutation	AAC,AGC	N81S	XP_005248936.1
XM_005248880.3	538	Missense Mutation	AAC,AGC	N81S	XP_005248937.1
XM_005248881.3	538	Missense Mutation	AAC,AGC	N81S	XP_005248938.1
XM_005248882.3	538	Missense Mutation	AAC,AGC	N81S	XP_005248939.1
XM_011514341.2	538	Missense Mutation	AAC,AGC	N161S	XP_011512643.1

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