Product Details

SNP ID

rs146901531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43234894 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTCTGTTGACAGGTACTGGCTGT[A/G]CTGGGAATAGGAGATTTTGCAGGGG

Phenotype

MIM: 177070 MIM: 603805

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EPB42 PubMed Links

Gene Details

Gene

EPB42

Gene Name

erythrocyte membrane protein band 4.2

There are no transcripts associated with this gene.

Gene

TGM5

Gene Name

transglutaminase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004245.3	964	Missense Mutation	CAC,TAC	H502Y	NP_004236.1
NM_201631.3	964	Missense Mutation	CAC,TAC	H584Y	NP_963925.2
XM_011522230.2	964	Missense Mutation	CAC,TAC	H241Y	XP_011520532.1
XM_017022729.1	964	Missense Mutation	CAC,TAC	H241Y	XP_016878218.1

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