Product Details

SNP ID

rs139624975

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:81428635 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATTTCCCCCCATTTCGCCATCAT[C/G]CCTTGGAGTGCCCGGTTGATTACTC

Phenotype

MIM: 607389

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SSBP2 PubMed Links

Gene Details

Gene

SSBP2

Gene Name

single stranded DNA binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256732.1	1532	Missense Mutation	CAT,GAT	H344D	NP_001243661.1
NM_001256733.1	1532	Missense Mutation	CAT,GAT	H316D	NP_001243662.1
NM_001256734.1	1532	Missense Mutation	CAT,GAT	H314D	NP_001243663.1
NM_001256735.1	1532	Missense Mutation	CAT,GAT	H306D	NP_001243664.1
NM_001256736.1	1532	Intron			NP_001243665.1
NM_012446.3	1532	Missense Mutation	CAT,GAT	H336D	NP_036578.2
XM_011543297.2	1532	Intron			XP_011541599.1
XM_017009304.1	1532	Missense Mutation	CAT,GAT	H340D	XP_016864793.1
XM_017009305.1	1532	Missense Mutation	CAT,GAT	H332D	XP_016864794.1
XM_017009306.1	1532	Intron			XP_016864795.1
XM_017009307.1	1532	Missense Mutation	CAT,GAT	H302D	XP_016864796.1
XM_017009308.1	1532	Missense Mutation	CAT,GAT	H232D	XP_016864797.1
XM_017009309.1	1532	Missense Mutation	CAT,GAT	H232D	XP_016864798.1
XM_017009310.1	1532	Missense Mutation	CAT,GAT	H232D	XP_016864799.1

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