Product Details

SNP ID

rs4623188

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:160059347 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGATGGCTTCTTTCCTTAAAGCAG[C/T]TTCCTCACTCAACCTTGGTAGGATT

Phenotype

MIM: 601963

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PWWP2A PubMed Links

Gene Details

Gene

PWWP2A

Gene Name

PWWP domain containing 2A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130864.1	1953	Intron			NP_001124336.1
NM_001267035.1	1953	Intron			NP_001253964.1
NM_052927.2	1953	Intron			NP_443159.1
XM_005265811.3	1953	Intron			XP_005265868.1
XM_005265812.2	1953	Intron			XP_005265869.1
XM_006714817.3	1953	Intron			XP_006714880.1
XM_011534424.2	1953	Intron			XP_011532726.1
XM_017009009.1	1953	Intron			XP_016864498.1
XM_017009010.1	1953	Intron			XP_016864499.1
XM_017009011.1	1953	Intron			XP_016864500.1
XM_017009012.1	1953	UTR 3			XP_016864501.1

Gene

TTC1

Gene Name

tetratricopeptide repeat domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282500.1	1953	Intron			NP_001269429.1
NM_003314.2	1953	Intron			NP_003305.1

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