Product Details

SNP ID

rs149340797

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:46053655 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATGCCAAGCTATTTTAGAGACAG[C/T]GGCAAAAGCTTCTCTACAGGTGGGT

Phenotype

MIM: 603101 MIM: 616453

Polymorphism

C/T, 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	1298	Missense Mutation	ACT,GCT	T374A	NP_001265470.1
NM_001872.4	1298	Missense Mutation	ACT,GCT	T411A	NP_001863.3
XM_017020393.1	1298	Missense Mutation	ACT,GCT	T402A	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005266301.3	1298	Intron			XP_005266358.1
XM_005266302.3	1298	Intron			XP_005266359.1
XM_005266303.3	1298	Intron			XP_005266360.1
XM_005266304.3	1298	Intron			XP_005266361.1
XM_005266305.3	1298	Intron			XP_005266362.1
XM_005266306.3	1298	Intron			XP_005266363.1
XM_005266307.3	1298	Intron			XP_005266364.1
XM_005266308.3	1298	Intron			XP_005266365.1
XM_005266309.3	1298	Intron			XP_005266366.1
XM_005266310.3	1298	Intron			XP_005266367.1
XM_005266311.3	1298	Intron			XP_005266368.1
XM_005266312.1	1298	Intron			XP_005266369.1
XM_017020475.1	1298	Intron			XP_016875964.1
XM_017020476.1	1298	Intron			XP_016875965.1
XM_017020477.1	1298	Intron			XP_016875966.1
XM_017020478.1	1298	Intron			XP_016875967.1
XM_017020479.1	1298	Intron			XP_016875968.1
XM_017020480.1	1298	Intron			XP_016875969.1
XM_017020481.1	1298	Intron			XP_016875970.1
XM_017020482.1	1298	Intron			XP_016875971.1

View Full Product Details