Product Details

SNP ID

rs56357230

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:66170731 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCATCACGAACCAGCCTCTGGACA[A/G]TGACATGTAGGTTTAATTTCTTGTG

Phenotype

MIM: 300167

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HEPH PubMed Links

Gene Details

Gene

HEPH

Gene Name

hephaestin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130860.3	272	Missense Mutation	AAT,AGT	N57S	NP_001124332.1
NM_001282141.1	272	Missense Mutation	AAT,AGT	N57S	NP_001269070.1
NM_014799.3	272	Intron			NP_055614.1
NM_138737.4	272	Missense Mutation	AAT,AGT	N108S	NP_620074.3
XM_006724722.1	272	Missense Mutation	AAT,AGT	N57S	XP_006724785.1
XM_011531073.2	272	Missense Mutation	AAT,AGT	N108S	XP_011529375.1
XM_011531074.2	272	Missense Mutation	AAT,AGT	N108S	XP_011529376.1
XM_011531075.2	272	Missense Mutation	AAT,AGT	N108S	XP_011529377.1
XM_017029998.1	272	Missense Mutation	AAT,AGT	N108S	XP_016885487.1
XM_017029999.1	272	Missense Mutation	AAT,AGT	N57S	XP_016885488.1
XM_017030000.1	272	Missense Mutation	AAT,AGT	N57S	XP_016885489.1
XM_017030001.1	272	Missense Mutation	AAT,AGT	N57S	XP_016885490.1
XM_017030002.1	272	Missense Mutation	AAT,AGT	N57S	XP_016885491.1
XM_017030003.1	272	Missense Mutation	AAT,AGT	N57S	XP_016885492.1

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