Product Details

SNP ID

rs199989758

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2178984 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGGCACGCGCTTGTCTCCTCCA[A/G]TTTCTGCCGGGCGCTGTCCCCTGGC

Phenotype

MIM: 612184 MIM: 606692

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CASKIN1 PubMed Links

Gene Details

Gene

CASKIN1

Gene Name

CASK interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020764.3	4149	Silent Mutation	CTG,TTG	L1373L	NP_065815.1

Gene

TRAF7

Gene Name

TNF receptor associated factor 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032271.2	4149	Intron			NP_115647.2
XM_005255627.4	4149	Intron			XP_005255684.1
XM_011522700.1	4149	Intron			XP_011521002.1

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