Product Details

SNP ID

rs1926447

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:46055809 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATGTGTATACCTGGTATTTTTACTA[A/G]TTTTCTCAATAGCACGAACTGCTTC

Phenotype

MIM: 603101 MIM: 616453

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CPB2 PubMed Links

Gene Details

Gene

CPB2

Gene Name

carboxypeptidase B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278541.1	1107	Missense Mutation	ACT,ATT	T310I	NP_001265470.1
NM_001872.4	1107	Missense Mutation	ACT,ATT	T347I	NP_001863.3
XM_017020393.1	1107	Missense Mutation	ACT,ATT	T338I	XP_016875882.1

Gene

CPB2-AS1

Gene Name

CPB2 antisense RNA 1

There are no transcripts associated with this gene.

Gene

ZC3H13

Gene Name

zinc finger CCCH-type containing 13

There are no transcripts associated with this gene.

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